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Thread: List of Rare Diseases

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    Thumbs up List of Rare Diseases

    Rare Diseases


    A

    * Aagenaes syndrome
    * Aarskog syndrome
    * Aase Smith syndrome
    * Aase syndrome
    * ABCD syndrome
    * Abderhalden-Kaufmann-Lignac syndrome
    * Abdominal aortic aneurysm
    * Abdominal chemodectomas with cutaneous angiolipomas
    * Abdominal cystic lymphangioma
    * Abdominal obesity metabolic syndrome
    * Aberrant subclavian artery
    * Abetalipoproteinemia
    * Abidi X-linked mental retardation syndrome
    * Ablepharon macrostomia syndrome
    * Abrikosov's tumor
    * Abruzzo Erickson syndrome
    * Absence defect of limbs, scalp, and skull
    * Absence of Gluteal muscle
    * Absence of septum pellucidum
    * Absence of Tibia
    * Absence of tibia with polydactyly
    * Absent abdominal musculature with microphthalmia and joint laxity
    * Absent breasts and nipples
    * Absent corpus callosum cataract immunodeficiency
    * Absent duct of Santorini
    * Absent patella
    * Absent T lymphocytes
    * Abuse dwarfism syndrome
    * Acalvaria
    * Acanthamoeba infection
    * Acanthocheilonemiasis
    * Acanthokeratodermia
    * Acanthoma
    * Acanthosis nigricans
    * Acanthosis nigricans muscle cramps acral enlargement
    * Acardia
    * Acatalasemia
    * Accessory deep peroneal nerve
    * Accessory navicular bone
    * Accessory pancreas
    * Aceruloplasminemia
    * Acetylcarnitine deficiency
    * Acetyl-coa acetyltransferase 2 deficiency
    * Achalasia
    * Achalasia Addisonianism Alacrimia syndrome
    * Achalasia alacrimia syndrome
    * Achalasia microcephaly
    * Achalasia, familial esophageal
    * Achard syndrome
    * Achard-Thiers syndrome
    * Acheiropodia
    * Achondrogenesis type 1A
    * Achondrogenesis type 1B
    * Achondrogenesis type 2
    * Achondrogenesis, type 3
    * Achondrogenesis, type 4
    * Achondroplasia
    * Achondroplasia and Swiss type agammaglobulinemia
    * Achromatopsia 1
    * Achromatopsia 2
    * Achromatopsia 3
    * Achromatopsia incomplete, X-linked
    * Acidemia propionic
    * Acidemia, isovaleric
    * Acinic cell carcinoma
    * Acitretin embryopathy
    * Ackerman syndrome
    * Acoustic neuroma
    * Acquired agranulocytosis
    * Acquired amegakaryocytic thrombocytopenia
    * Acquired angioedema
    * Acquired hypoprothrombinemia
    * Acquired ichthyosis
    * Acquired prothrombin deficiency
    * Acquired pure megakaryocytic aplasia
    * Acral dysostosis dyserythropoiesis
    * Acral lentiginous melanoma
    * Acro coxo mesomelic dysplasia
    * Acrocallosal syndrome, Schinzel type
    * Acrocephalopolydactyly
    * Acrocephaly pulmonary stenosis mental retardation
    * Acrodermatitis
    * Acrodermatitis enteropathica
    * Acrodysostosis
    * Acrodysplasia scoliosis
    * Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
    * Acrofacial dysostosis ambiguous genitalia
    * Acrofacial dysostosis atypical postaxial
    * Acrofacial dysostosis Catania form
    * Acrofacial dysostosis Preis type
    * Acrofacial dysostosis Rodriguez type
    * Acrofacial dysostosis, Nager type
    * Acrofacial dysostosis, Palagonia type
    * Acrofrontofacionasal dysostosis syndrome
    * Acrogeria, gottron type
    * Acrokeratoelastoidosis of Costa
    * Acromegaloid changes, cutis verticis gyrata and corneal leukoma
    * Acromegaloid facial appearance syndrome
    * Acromegaloid features, overgrowth, cleft palate, and hernia
    * Acromegaloid hypertrichosis syndrome
    * Acromegaly
    * Acromelic frontonasal dysplasia
    * Acromesomelic dysplasia
    * Acromesomelic dysplasia Campailla Martinelli type
    * Acromesomelic dysplasia Hunter Thompson type
    * Acromesomelic dysplasia, Maroteaux type
    * Acromicric dysplasia
    * Acroosteolysis dominant type
    * Acropectoral syndrome
    * Acropectorenal field defect
    * Acropectorovertebral dysplasia
    * Acrorenal mandibular syndrome
    * Acrorenal syndrome recessive
    * Acrospiroma
    * ACTH deficiency
    * ACTH resistance
    * Actinic cheilitis
    * Actinomycetales infection
    * Acutane embryopathy
    * Acute articular rheumatism
    * Acute biphenotypic leukemia
    * Acute cholinergic dysautonomia
    * Acute disseminated encephalomyelitis
    * Acute erythroblastic leukemia
    * Acute erythroleukemia
    * Acute fatty liver of pregnancy
    * Acute hemorrhagic leukoencephalitis
    * Acute idiopathic polyneuritis
    * Acute intermittent porphyria
    * Acute lymphoblastic leukemia congenital sporadic aniridia
    * Acute lymphoblastic leukemia, adult
    * Acute megakaryoblastic leukemia
    * Acute monoblastic leukemia
    * Acute mountain sickness
    * Acute myeloblastic leukemia type 1
    * Acute myeloblastic leukemia type 2
    * Acute myeloblastic leukemia type 3
    * Acute myeloblastic leukemia type 4
    * Acute myeloblastic leukemia type 5
    * Acute myeloblastic leukemia type 6
    * Acute myeloblastic leukemia type 7
    * Acute myeloblastic leukemia with maturation
    * Acute myeloblastic leukemia without maturation
    * Acute myelocytic leukemia
    * Acute myelogenous leukemia
    * Acute myeloid leukemia, adult
    * Acute myelomonocytic leukemia
    * Acute necrotizing ulcerative gingivitis
    * Acute non lymphoblastic leukemia (generic term)
    * Acute posterior multifocal placoid pigment
    * Acute promyelocytic leukemia
    * Acute respiratory distress syndrome
    * Acute zonal occult outer retinopathy
    * Acyl-CoA oxidase deficiency
    * Adactylia unilateral dominant
    * Adams Nance syndrome
    * Adams Oliver syndrome
    * Addison's disease
    * Adducted thumb and clubfoot syndrome
    * Adducted thumb syndrome recessive form
    * Adducted thumbs Dundar type
    * Adenine phosphoribosyltransferase deficiency
    * Adenoameloblastoma
    * Adenocarcinoid tumor
    * Adenocarcinoma of lung
    * Adenoid cystic carcinoma
    * Adenoma of the adrenal gland
    * Adenomyosis
    * Adenosarcoma of the uterus
    * Adenosine deaminase deficiency
    * Adenosine monophosphate deaminase deficiency
    * Adenosine triphosphatase deficiency, anemia due to
    * Adenylosuccinate lyase deficiency
    * Adie syndrome
    * Adiposis dolorosa
    * Adnexal, spiradenoma/cylindroma, of a sweat gland
    * Adrenal adenoma, familial
    * Adrenal cancer
    * Adrenal gland hyperfunction
    * Adrenal gland hypofunction
    * Adrenal hyperplasia
    * Adrenal hyperplasia 2
    * Adrenal hyperplasia, congenital, type 5
    * Adrenal hypertension
    * Adrenal incidentaloma
    * Adrenal macropolyadenomatosis
    * Adrenal medulla neoplasm
    * Adrenocortical carcinoma
    * Adrenoleukodystrophy, autosomal, neonatal form
    * Adrenomyodystrophy
    * Adult low grade infiltrative supratentorial Astrocytoma Oligodendroglioma
    * Adult onset angioedema
    * Adult onset Still's disease
    * Adult progressive spinal muscular atrophy Aran Duchenne type
    * Adult spinal muscular atrophy
    * ADULT syndrome
    * Adult-onset citrullinemia type 2
    * Advanced sleep phase syndrome
    * Aerobic actinomyces infection
    * Afibrinogenemia
    * African trypanosomiasis
    * Agammaglobulinemia, microcephaly, and severe dermatitis
    * Agammaglobulinemia, non-Bruton type
    * Agammaglobulinemia, X-linked, type 2
    * Aganglionosis, total intestinal
    * Aggressive fibromatosis
    * Aggressive systemic mastocytosis
    * Aglossia and Situs Inversus
    * Agnathia-microstomia-synotia
    * Agnosia
    * Agyria pachygyria polymicrogyria
    * Agyria-pachygyria type 1
    * Ahumada-Del Castillo syndrome
    * Aicardi syndrome
    * Aicardi-Goutieres syndrome
    * Aicardi-Goutieres syndrome 5
    * AIDS Dementia Complex
    * AIDS dysmorphic syndrome
    * Ainhum
    * Akaba Hayasaka syndrome
    * Akesson syndrome
    * Aksu von Stockhausen syndrome
    * Al Awadi syndrome
    * Al Gazali Aziz Salem syndrome
    * Al Gazali Donnai Mueller syndrome
    * Al Gazali Hirschsprung syndrome
    * Al Gazali Khidr Prem Chandran syndrome
    * Al Gazali Sabrinathan Nair syndrome
    * Alagille syndrome
    * Albers-Schonberg disease
    * Albinism
    * Albinism deafness syndrome
    * Albinism immunodeficiency
    * Albinism ocular late onset sensorineural deafness
    * Albinism oculocutaneous, Hermansky-Pudlak type
    * Albinism, minimal pigment type
    * Albrecht Schneider Belmont syndrome
    * Albright like syndrome
    * Albright's hereditary osteodystrophy
    * Alcohol antenatal infection
    * Aldolase A deficiency
    * Aldred syndrome
    * Aleukemic leukemia cutis
    * Alexander disease
    * Al-gazali syndrome
    * Alkaptonuria
    * Allain Babin Demarquez syndrome
    * Allan-Herndon-Dudley syndrome
    * Allanson Pantzar McLeod syndrome
    * Allergic angiitis
    * Allergic autoimmune thyroiditis
    * Allergic bronchopulmonary aspergillosis
    * Allergic encephalomyelitis
    * Aloi Tomasini Isaia syndrome
    * Alopecia areata
    * Alopecia congenita keratosis palmoplantaris
    * Alopecia contractures dwarfism mental retardation
    * Alopecia epilepsy oligophrenia syndrome of Moynahan
    * Alopecia hypogonadism extrapyramidal disorder
    * Alopecia immunodeficiency
    * Alopecia macular degeneration growth retardation
    * Alopecia mental retardation hypogonadism
    * Alopecia mental retardation syndrome
    * Alopecia totalis
    * Alopecia universalis
    * Alopecia universalis onychodystrophy vitiligo
    * Alopecia, epilepsy, pyorrhea, mental subnormality
    * Alpers disease
    * Alpers syndrome
    * Alpha 1-antitrypsin deficiency
    * Alpha-2 deficient collagen disease
    * Alpha-ketoglutarate dehydrogenase deficiency
    * Alpha-L-iduronidase deficiency
    * Alpha-mannosidosis type 1
    * Alpha-mannosidosis, type 2
    * Alpha-Thalassemia
    * Alpha-thalassemia-abnormal morphogenesis
    * Alport syndrome
    * Alport syndrome, dominant type
    * Alport syndrome, recessive type
    * Alsing syndrome
    * Alstrom syndrome
    * Alternating hemiplegia of childhood
    * Aluminium lung
    * Alveolar capillary dysplasia
    * Alveolar echinococcosis
    * Alveolar soft part sarcoma
    * Alveolitis, extrinsic allergic
    * Alves Castelo dos Santos syndrome
    * Alzheimer disease type 1
    * Alzheimer disease type 2
    * Alzheimer disease type 4
    * Alzheimer disease, familial
    * Alzheimer disease, familial, type 3
    * Alzheimer's disease without Neurofibrillary tangles
    * Amastia
    * Amaurosis congenita of Leber
    * Amaurosis congenita of Leber, type 1
    * Amaurosis congenita of Leber, type 2
    * Amaurosis congenita of Leber, type 5
    * Amaurosis congenita of Leber, type 9
    * Amaurosis fugax
    * Amaurosis hypertrichosis
    * Ambras syndrome
    * Amebiasis
    * Amelia cleft lip palate hydrocephalus iris coloboma
    * Amelogenesis imperfecta
    * Amelogenesis Imperfecta hypomaturation type
    * Amelogenesis imperfecta local hypoplastic form
    * Amelogenesis imperfecta nephrocalcinosis
    * Amelogenesis imperfecta pigmented hypomaturation type
    * Amelogenesis imperfecta, hypoplastic type, IG
    * Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1
    * Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
    * Ameloonychohypohidrotic syndrome
    * Aminoacidopathies
    * Aminoaciduria
    * Aminoacylase 1 deficiency
    * Amish lethal microcephaly
    * Amniotic band syndrome
    * Ampola syndrome
    * Amyloid angiopathy
    * Amyloid Neuropathies
    * Amyloid polyneuropathy, transthyretin related
    * Amyloidosis
    * Amyloidosis of gingiva and conjunctiva mental retardation
    * Amyloidosis, familial visceral
    * Amyopathic dermatomyositis
    * Amyoplasia
    * Amyoplasia mandibulofacial dysostosis
    * Amyotonia congenita
    * Amyotrophic lateral sclerosis
    * Amyotrophic lateral sclerosis type 2
    * Amyotrophic lateral sclerosis, type 6
    * Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
    * Amyotrophy, monomelic
    * Anal cancer
    * Anal sphincter dysplasia
    * Anaplastic large cell lymphoma
    * Anaplastic small cell lymphoma
    * Anauxetic dysplasia
    * Ancylostoma duodenale
    * Andersen Tawil syndrome
    * Androgen insensitivity syndrome
    * Androgen insensitivity syndrome, partial
    * Androgenetic alopecia
    * Anemia, Diamond-Blackfan, 2
    * Anemia, Diamond-Blackfan, 3
    * Anemia, hereditary spherocytic hemolytic
    * Anemia, hypochromic microcytic
    * Anemia, Hypoplastic, Congenital
    * Anemia, Sideroblastic
    * Anemia, sideroblastic spinocerebellar ataxia
    * Anencephaly
    * Anencephaly and spina bifida X-linked
    * Aneuploidy
    * Aneurysm of sinus of Valsalva
    * Aneurysm, intracranial berry, 2
    * Aneurysmal bone cysts
    * Angel shaped phalangoepiphyseal dysplasia
    * Angelman syndrome
    * Angiofollicular ganglionic hyperplasia
    * Angiofollicular lymph hyperplasia
    * Angioimmunoblastic with dysproteinemia lymphadenopathy
    * Angiokeratoma mental retardation coarse face
    * Angioma hereditary neurocutaneous
    * Angioma serpiginosum, autosomal dominant
    * Angioma serpiginosum, X-linked
    * Angiomatosis encephalotrigeminal
    * Angiomatosis leptomeningeal capillary - venous
    * Angiomatosis systemic cystic Seip syndrome
    * Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
    * Angiomyomatous Hamartoma
    * Angiosarcoma of the breast
    * Angiosarcoma of the liver
    * Angiosarcoma of the scalp
    * Angiostrongyliasis
    * Angiotensin renin aldosterone hypertension
    * Anguillulosis
    * Aniridia
    * Aniridia absent patella
    * Aniridia ataxia renal agenesis psychomotor retardation
    * Aniridia cerebellar ataxia mental deficiency
    * Aniridia mental retardation syndrome
    * Aniridia ptosis mental retardation obesity familial
    * Aniridia renal agenesis psychomotor retardation
    * Aniridia, sporadic
    * Aniridia, type 2
    * Anisakiasis
    * Ankle defects short stature
    * Ankyloblepharon filiforme adnatum cleft palate
    * Ankyloblepharon filiforme imperforate anus
    * Ankyloglossia heterochromia clasped thumbs
    * Ankylosing spondylarthritis
    * Ankylosis of teeth
    * Ankylostomiasis
    * Annular constricting bands
    * Annular pancreas
    * Annuloaortic ectasia
    * Anodontia
    * Anonychia congenita
    * Anonychia ectrodactyly
    * Anonychia microcephaly
    * Anonychia onychodystrophy
    * Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
    * Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
    * Anophthalmia cleft lip palate hypothalamic disorder
    * Anophthalmia cleft palate micrognathia
    * Anophthalmia esophageal atresia cryptorchidism
    * Anophthalmia megalocornea cardiopathy skeletal anomalies
    * Anophthalmia microcephaly hypogonadism
    * Anophthalmia plus syndrome
    * Anophthalmia short stature obesity
    * Anophthalmia with pulmonary hypoplasia
    * Anophthalmos with limb anomalies
    * Anorchia
    * Anorectal atresia
    * Anotia
    * Anotia facial palsy cardiac defect
    * Ansell Bywaters Elderking syndrome
    * Anterior horn disease
    * Anterior pituitary insufficiency, familial
    * Anterior polar cataract 2
    * Anterior segment mesenchymal dysgenesis
    * Anterior spinal artery stroke
    * Anthrax
    * Anti-factor 8 autoimmunization
    * Antigen-peptide-transporter 2 deficiency
    * Anti-HLA hyperimmunization
    * Antihypertensive drugs antenatal infection
    * Antiphospholipid syndrome
    * Anti-plasmin deficiency, congenital
    * Antisocial personality disorder
    * Antisynthetase syndrome
    * Antithrombin deficiency type 2
    * Antithrombin deficiency, congenital
    * Antley-Bixler syndrome
    * Anton's syndrome
    * Aorta-pulmonary artery fistula
    * Aortic aneurysm, familial thoracic 3
    * Aortic aneurysm, familial thoracic 4
    * Aortic arch anomaly with peculiar facies and mental retardation
    * Aortic arch interruption
    * Aortic arches defect
    * Aortic coarctation
    * Aortic dissection lentiginosis
    * Aortic supravalvular stenosis
    * Aortic valve stenosis
    * Aortic valves stenosis of the child
    * Aortic window
    * Apert like polydactyly syndrome
    * Apert syndrome
    * Aphakia, congenital primary
    * Aphalangia syndactyly microcephaly
    * Aphthous stomatitis
    * Aplasia cutis autosomal recessive
    * Aplasia cutis congenita
    * Aplasia cutis congenita dominant
    * Aplasia cutis congenita epibulbar dermoids
    * Aplasia cutis congenita intestinal lymphangiectasia
    * Aplasia cutis congenita of limbs recessive
    * Aplasia cutis congenita recessive
    * Aplasia cutis myopia
    * Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
    * Aplastic anemia
    * Apo A-I deficiency
    * Apolipoprotein C 2I deficiency
    * Apparent mineralocorticoid excess
    * Apraxia
    * Apraxia manual
    * Apraxia, oculomotor, Cogan type
    * APUDoma
    * Arachindonic acid, absence of
    * Arachnodactyly ataxia cataract aminoaciduria mental retardation
    * Arachnodactyly mental retardation dysmorphism
    * Arachnoiditis
    * Arakawa syndrome 1
    * Arakawa's syndrome 2
    * Arbovirosis
    * AREDYLD
    * Arena syndrome
    * Arginase deficiency
    * Argininosuccinic aciduria
    * Arhinia, choanal atresia, and microphthalmia
    * Arima syndrome
    * Arnold Stickler Bourne syndrome
    * Arnold-Chiari malformation
    * Arnold-Chiari malformation, type 1
    * Arnold-Chiari malformation, type 2
    * Arnold-Chiari malformation, type 3
    * Arnold-Chiari malformation, type 4
    * Aromatase deficiency
    * Aromatic amino acid decarboxylase deficiency
    * Arrhinia
    * Arrhythmogenic right ventricular dysplasia
    * Arroyo Garcia Cimadevilla syndrome
    * Arterial calcification of infancy
    * Arterial dysplasia
    * Arterial tortuosity
    * Arthritis short stature deafness
    * Arthrogryposis
    * Arthrogryposis and ectodermal dysplasia
    * Arthrogryposis due to muscular dystrophy
    * Arthrogryposis epileptic seizures migrational brain disorder
    * Arthrogryposis IUGR thoracic dystrophy
    * Arthrogryposis like disorder
    * Arthrogryposis multiplex congenita
    * Arthrogryposis multiplex congenita CNS calcification
    * Arthrogryposis multiplex congenita distal
    * Arthrogryposis multiplex congenita neurogenic type
    * Arthrogryposis multiplex congenita pulmonary hypoplasia
    * Arthrogryposis multiplex congenita type 2B
    * Arthrogryposis multiplex congenita whistling face
    * Arthrogryposis multiplex congenita, distal type 1
    * Arthrogryposis multiplex congenita, distal type 2
    * Arthrogryposis multiplex congenita, distal, X-linked
    * Arthrogryposis multiplex with deafness, inguinal hernias, and early death
    * Arthrogryposis ophthalmoplegia retinopathy
    * Arthrogryposis renal dysfunction cholestasis syndrome
    * Arthrogryposis spinal muscular atrophy
    * Arthrogryposis, distal, type 2b
    * Arthrogryposis, distal, type 2E
    * Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
    * Arthrogryposis-like hand anomaly and sensorineural deafness
    * Arthropathy, progressive pseudorheumatoid, of childhood
    * Arts syndrome
    * Asbestosis
    * Ascher's Syndrome
    * Asherman's syndrome
    * Aspartylglycosaminuria
    * Aspergillosis
    * Aspergillus niger infection
    * Asphyxia neonatorum
    * Asrar Facharzt Haque syndrome
    * Asternia
    * Asternia with Cardiac, Diaphragmatic, and Abdominal defects
    * Asthenia
    * Astley-Kendall syndrome
    * Astrocytoma
    * Asymmetric septal hypertrophy
    * Ataxia telangiectasia variant V1
    * Ataxia with vitamin E deficiency
    * Ataxia-deafness syndrome
    * Ataxia-Telangiectasia
    * Atelosteogenesis type 2
    * Atelosteogenesis, type 1
    * Athabaskan brainstem dysgenesis
    * Athetosis
    * Atkin syndrome
    * Atlanto-Axial Fusion
    * Atransferrinemia
    * Atresia of small intestine
    * Atrial fibrillation, familial 1
    * Atrial myxoma, familial
    * Atrial septal defect 2
    * Atrioventricular septal defect
    * Atrophoderma of Pierini and Pasini
    * Atrophodermia vermiculata
    * ATR-X syndrome
    * Attenuated FAP
    * Atypical hemolytic uremic syndrome
    * Atypical lipodystrophy
    * Atypical mole syndrome
    * Atypical mycobacteriosis, familial
    * Auditory neuropathy
    * Auditory perceptual disorder
    * Aughton syndrome
    * Auralcephalosyndactyly
    * Auriculo-condylar syndrome
    * Auriculoosteodysplasia
    * Ausems Wittebol-Post Hennekam syndrome
    * Autoimmune enteropathy
    * Autoimmune hemolytic anemia
    * Autoimmune hepatitis
    * Autoimmune Inner Ear disease
    * Autoimmune lymphoproliferative syndrome
    * Autoimmune myocarditis
    * Autoimmune oophoritis
    * Autoimmune peripheral neuropathy
    * Autoimmune polyendocrinopathy syndrome, type 1
    * Autoimmune progesterone dermatitis
    * Autosomal dominant compelling helio ophthalmic outburst syndrome
    * Autosomal dominant partial epilepsy with auditory features
    * Autosomal recessive nonsyndromic congenital nuclear cataract
    * Avasthey syndrome
    * Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
    * Axial mesodermal dysplasia spectrum
    * Axial osteomalacia
    * Axial osteosclerosis
    * Ayazi syndrome



    B

    * Baber's syndrome
    * Babesiosis
    * Baby rattle pelvic dysplasia
    * Bacterial endocarditis
    * Bacterial meningitis
    * BAER
    * Baetz-Greenwalt syndrome
    * Bagatelle Cassidy syndrome
    * Bahemuka Brown syndrome
    * Baker Vinters syndrome
    * Baker-Winegrad disease
    * Balantidiasis
    * Ballard syndrome
    * Balo disease
    * Balo's concentric sclerosis
    * Bamforth syndrome
    * BANF acoustic neurinoma
    * Bangstad syndrome
    * Banki syndrome
    * Bannayan-Zonana syndrome
    * Banti's syndrome
    * Bantu siderosis
    * Baraitser Brett Piesowicz syndrome
    * Baraitser Rodeck Garner syndrome
    * Barakat syndrome
    * Barber Say syndrome
    * Bardet-Biedl syndrome 1
    * Bardet-Biedl syndrome 10
    * Bardet-Biedl syndrome 11
    * Bardet-Biedl syndrome 12
    * Bardet-Biedl syndrome 2
    * Bardet-Biedl syndrome 3
    * Bardet-Biedl syndrome 4
    * Bardet-Biedl syndrome 5
    * Bardet-Biedl syndrome 6
    * Bardet-Biedl syndrome 7
    * Bardet-Biedl syndrome 8
    * Bardet-Biedl syndrome 9
    * Bare lymphocyte syndrome

    * Bare lymphocyte syndrome 2
    * Baritosis
    * Barnicoat Baraitser syndrome
    * Barre Lieou syndrome
    * Barth syndrome
    * Bartsocas Papa syndrome
    * Bartter syndrome, antenatal , type 2
    * Bartter syndrome, antenatal type 1
    * Bartter syndrome, type 3
    * Bartter's syndrome
    * Basal cell carcinoma, infundibulocystic
    * Basal cell carcinoma, multiple
    * Basal cell nevus anodontia abnormal bone mineralization
    * Basal ganglia calcification, idiopathic 2
    * Basal ganglia disease, biotin-responsive
    * Basan syndrome
    * Basaran Yilmaz syndrome
    * Basedow's coma
    * Basilar artery migraines
    * Basilar impression primary
    * Bassoe syndrome
    * Battaglia Neri syndrome
    * Batten Turner muscular dystrophy
    * Baughman syndrome
    * Bazex-Dupre-Christol syndrome
    * Bazopoulou Kyrkanidou syndrome
    * B-cell lymphomas
    * Bd syndrome
    * Beardwell syndrome
    * Bebe Collodion syndrome
    * Becker's muscular dystrophy
    * Becker's nevus
    * Beckwith-Wiedemann syndrome
    * Bednar's tumor
    * Beemer Ertbruggen syndrome
    * Behcet syndrome
    * Behr syndrome
    * Behrens Baumann Dust syndrome
    * Bejel
    * Bellini Chiumello Rinoldi syndrome
    * Bell's palsy
    * Ben Ari Shuper Mimouni syndrome
    * Benallegue Lacete syndrome
    * Bencze syndrome
    * Benign angiitis of the central nervous system
    * Benign astrocytoma
    * Benign autosomal dominant myopathy
    * Benign congenital hypotonia
    * Benign essential blepharospasm
    * Benign essential tremor syndrome
    * Benign familial hematuria
    * Benign familial infantile epilepsy
    * Benign familial neonatal-infantile seizures
    * Benign lymphoma
    * Benign mucosal pemphigoid
    * Benign paroxysmal positional vertigo
    * Bentham Driessen Hanveld syndrome
    * Berger disease
    * Beriberi
    * Berk-Tabatznik syndrome
    * Berlin Breakage syndrome
    * Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
    * Berylliosis
    * Best vitelliform macular dystrophy
    * Beta ketothiolase deficiency
    * Beta-galactosidase-1 deficiency
    * Beta-sarcoglycanopathy
    * Beta-thalassemia
    * Bethlem myopathy
    * Bhaskar Jagannathan syndrome
    * Bidirectional tachycardia
    * Biemond syndrome
    * Biemond syndrome type 1
    * Biemond syndrome type 2
    * Biermer disease
    * Bietti's crystalline dystrophy
    * Bifid nose
    * Bilateral renal agenesis dominant type
    * Bile acid synthesis defect, congenital, 1
    * Bile acid synthesis defect, congenital, 2
    * Bile acid synthesis defect, congenital, 4
    * Bile duct cancer, extrahepatic
    * Bile duct cysts
    * Biliary atresia
    * Biliary atresia, extrahepatic
    * Biliary atresia, intrahepatic, non syndromic form
    * Biliary atresia, intrahepatic, syndromic form
    * Biliary cirrhosis
    * Biliary hypoplasia
    * Biliary malformation renal tubular insufficiency
    * Biliary tract cancer
    * Bilirubin induced brain injury in the newborn
    * Billet Bear syndrome
    * Binswanger's disease
    * Biotinidase deficiency
    * Bird headed dwarfism Montreal type
    * Birdshot chorioretinopathy
    * Birt-Hogg-Dube syndrome
    * Bixler Christian Gorlin syndrome
    * Bjornstad syndrome
    * Bladder neoplasm
    * Blaichman syndrome
    * Blastoma
    * Blastomycosis
    * Blepharo facio skeletal syndrome
    * Blepharo naso facial syndrome Van maldergem type
    * Blepharophimosis
    * Blepharophimosis nasal groove growth retardation
    * Blepharophimosis ptosis esotropia syndactyly short
    * Blepharophimosis syndrome Ohdo type
    * Blepharophimosis syndrome type 1
    * Blepharophimosis syndrome type 2
    * Blepharophimosis with ptosis, syndactyly, and short stature
    * Blepharoptosis aortic anomaly
    * Blepharoptosis cleft palate ectrodactyly dental anomalies
    * Blepharoptosis myopia ectopia lentis
    * Blepharospasm
    * Blethen Wenick Hawkins syndrome
    * Blood coagulation disorders, inherited
    * Bloom syndrome
    * Blount disease
    * Blue cone monochromatism
    * Blue diaper syndrome
    * Blue rubber bleb nevus
    * Bobble-head doll syndrome
    * BOD syndrome
    * Boerhaave syndrome
    * Bone dysplasia Azouz type
    * Bone dysplasia corpus callosum agenesis
    * Bone dysplasia lethal Holmgren type
    * Bone dysplasia Moore type
    * Bone fragility craniosynostosis proptosis hydrocephalus
    * Bone marrow failure neurologic abnormalities
    * Bone Marrow failure syndromes
    * Bone neoplasms
    * Bonneau-Beaumont syndrome
    * Bonneman Meinecke Reich syndrome
    * Bonnemann Meinecke syndrome
    * Book syndrome
    * Boomerang dysplasia
    * Bor-Duane hydrocephalus contiguous gene syndrome
    * Borjeson-Forssman-Lehmann syndrome
    * Bork Stender Schmidt syndrome
    * Borreliosis
    * Borrone Di Rocco Crovato syndrome
    * Boscherini Galasso Manca Bitti syndrome
    * Bosma Henkin Christiansen syndrome
    * Bothriocephalosis
    * Botulism
    * Boucher Neuhauser syndrome
    * Boudhina Yedes Khiari syndrome
    * Bourneville syndrome
    * Bourneville syndrome, type 1
    * Bourneville syndrome, type 2
    * Bowen syndrome
    * Bowen-Conradi syndrome
    * Bowenoid papulosis
    * Bowen's disease
    * Bowing congenital short bones
    * Bowing of legs, anterior, with dwarfism
    * Bowing of long bones congenital
    * Boylan Dew Greco syndrome
    * Brachioskeletogenital syndrome
    * Brachman-de Lange syndrome
    * Brachycephalofrontonasal dysplasia
    * Brachydactylous dwarfism Mseleni type
    * Brachydactyly absence of distal phalanges
    * Brachydactyly anonychia
    * Brachydactyly clinodactyly
    * Brachydactyly dwarfism mental retardation
    * Brachydactyly elbow wrist dysplasia
    * Brachydactyly long thumb type
    * Brachydactyly mesomelia mental retardation heart defects
    * Brachydactyly nystagmus cerebellar ataxia
    * Brachydactyly preaxial with hallux varus and thumb abduction
    * Brachydactyly scoliosis carpal fusion
    * Brachydactyly small stature face anomalies
    * Brachydactyly Smorgasbord type
    * Brachydactyly tibial hypoplasia
    * Brachydactyly type a1
    * Brachydactyly type A2
    * Brachydactyly type A3
    * Brachydactyly type A5 nail dysplasia
    * Brachydactyly type A6
    * Brachydactyly type a7
    * Brachydactyly type B
    * Brachydactyly type C
    * Brachydactyly type E
    * Brachydactyly types B and E combined
    * Brachydactyly with hypertension
    * Brachymesomelia renal syndrome
    * Brachymesophalangy 2 and 5
    * Brachymesophalangy type 2
    * Brachymetapody anodontia hypotrichosis albinoidism
    * Brachymorphism onychodysplasia dysphalangism syndrome
    * Brachyolmia
    * Brachyolmia, recessive Hobaek type
    * Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
    * Brachytelephalangy characteristic facies Kallmann
    * Braddock Jones Superneau syndrome
    * Bradykinesia
    * Brain Stem neoplasms
    * Brain tumor, adult
    * Branchial arch defects
    * Branchial arch syndrome X-linked
    * Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and
    * Branchio oculo facial syndrome Hing type
    * Branchio-oculo-facial syndrome
    * Branchiootic syndrome
    * Branchiootorenal syndrome 1
    * Branchiootorenal syndrome 2
    * Brenner tumor of ovary
    * Brenner tumor of the vagina
    * Bright’s Disease
    * Brittle bone syndrome lethal type
    * Broad beta disease
    * Broad-betalipoproteinemia
    * Brody myopathy
    * Bronchiectasis oligospermia
    * Bronchiolitis obliterans organizing pneumonia
    * Bronchiolitis obliterans with obstructive pulmonary disease
    * Bronchogenic cyst
    * Bronchopulmonary amyloidosis
    * Bronchopulmonary dysplasia
    * Brown syndrome
    * Brown-Sequard syndrome
    * Brown-Vialetto-Van laere syndrome
    * Brucellosis
    * Bruck syndrome 1
    * Bruck syndrome, 2
    * Brugada syndrome
    * Brunoni syndrome
    * Bruton type agammaglobulinemia
    * Bruyn Scheltens syndrome
    * Budd-Chiari syndrome
    * Buerger's disease
    * Bulbospinal amyotrophy, X-linked
    * Bull Nixon syndrome
    * Bullous dystrophy macular type
    * Bullous erythroderma ichthyosiformis congenita of Brocq
    * Bullous pemphigoid
    * Buntinx Lormans Martin syndrome
    * Burkitt's lymphoma
    * Burn Goodship syndrome
    * Burnett Schwartz Berberian syndrome
    * Burning mouth syndrome
    * Burning mouth syndrome- Type 3
    * Burn-Mckeown syndrome
    * Buruli ulcer
    * Buschke Lowenstein Tumor
    * Buschke Ollendorff syndrome
    * Bustos Simosa Pinto Cisternas syndrome
    * Buttiens Fryns syndrome
    * Butyrylcholinesterase deficiency
    * Byssinosis

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    C


    * C syndrome
    * CACH syndrome
    * CADASIL
    * Cafe au lait spots, multiple
    * Caffey disease
    * CAHMR syndrome
    * Calabro syndrome
    * Calcifying Epithelial Odontogenic Tumor
    * Calciphylaxis
    * Calloso-genital dysplasia
    * Calvarial hyperostosis
    * Camera Marugo Cohen syndrome
    * CAMFAK syndrome
    * Campomelia Cumming type
    * Campomelic dysplasia
    * Camptobrachydactyly
    * Camptocormism
    * Camptodactyly joint contractures and facial skeletal dysplasia
    * Camptodactyly syndrome Guadalajara type 1
    * Camptodactyly syndrome Guadalajara type 2
    * Camptodactyly taurinuria
    * Camptodactyly vertebral fusion
    * Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
    * Camptodactyly, tall stature, and hearing loss syndrome
    * Camptodactyly-ichthyosis syndrome
    * Camptomelic syndrome long limb type
    * Camurati Engelmann disease, type 2
    * Camurati-Engelmann disease
    * Canavan disease
    * Candidiasis familial chronic mucocutaneous, autosomal recessive
    * CANOMAD syndrome
    * Cantalamessa Baldini Ambrosi syndrome
    * Cantu Sanchez-Corona Fragoso syndrome
    * Cantu Sanchez-Corona Garcia-cruz syndrome
    * Cantu Sanchez-Corona Hernandez syndrome
    * Cantu syndrome
    * Capillary leak syndrome with monoclonal gammopathy
    * Capillary venous leptomeningeal angiomatosis
    * Carbamoyl phosphate synthase 1 deficiency
    * Carbamoyl-phosphate synthase I deficiency disease (ornithine carbamoyl phosphate deficiency)
    * Carbon baby syndrome
    * Carcinoid syndrome
    * Carcinoid tumor
    * Carcinoma of the vocal tract
    * Carcinoma, squamous cell
    * Carcinoma, squamous cell of head and neck
    * Cardiac and laterality defects
    * Cardiac conduction defect, familial
    * Cardiac diverticulum
    * Cardiac hydatid cysts with intracavitary expansion
    * Cardiac valvular dysplasia, X-linked
    * Cardioauditory syndrome of Sanchez Cascos
    * Cardiocranial syndrome
    * Cardiofacial syndrome short limbs
    * Cardiofaciocutaneous syndrome
    * Cardiogenital syndrome
    * Cardiomelic syndrome Stratton Koehler type
    * Cardiomyopathy cataract hip spine disease
    * Cardiomyopathy diabetes deafness
    * Cardiomyopathy dilated with conduction defect type 1
    * Cardiomyopathy dilated with conduction defect type 2
    * Cardiomyopathy dilated with Woolly hair and keratoderma
    * Cardiomyopathy due to anthracyclines
    * Cardiomyopathy hearing loss type t RNA lysine gene mutation
    * Cardiomyopathy hypogonadism collagenoma syndrome
    * Cardiomyopathy hypogonadism metabolic anomalies
    * Cardiomyopathy spherocytosis
    * Cardiomyopathy, familial dilated
    * Cardiomyopathy, fatal fetal, due to myocardial calcification
    * Cardiomyopathy, infantile histiocytoid
    * Cardiomyopathy, X-linked, fatal infantile
    * Cardioskeletal myopathy-neutropenia
    * Cardiospasm
    * Carnevale Canun Mendoza syndrome
    * Carnevale Hernandez Castillo syndrome
    * Carnevale syndrome
    * Carney syndrome
    * Carnitine palmitoyl transferase 1A deficiency
    * Carnitine palmitoyl transferase 2 deficiency
    * Carnitine transporter deficiency
    * Carnitine-acylcarnitine translocase deficiency
    * Carnosinase deficiency
    * Carnosinemia
    * Caroli disease
    * Carpal deformity migrognathia microstomia
    * Carpenter Hunter type
    * Carpenter syndrome
    * Carpo tarsal osteolysis recessive
    * Carpotarsal osteochondromatosis
    * Carrington syndrome
    * Cartilage hair hypoplasia like syndrome
    * Cartilage-hair hypoplasia
    * Cartilaginous neoplasms
    * Cartwright Nelson Fryns syndrome
    * Caspase-8 deficiency
    * Castro Gago Pombo Novo syndrome
    * Cat Eye syndrome
    * Cat Rodrigues syndrome
    * Cat Scratch Disease
    * Catamenial pneumothorax
    * Cataplexy
    * Cataract and cardiomyopathy
    * Cataract and congenital ichthyosis
    * Cataract anterior polar dominant
    * Cataract ataxia deafness
    * Cataract congenital autosomal dominant
    * Cataract congenital dominant non nuclear
    * Cataract congenital Volkmann type
    * Cataract dental syndrome
    * Cataract Hutterite type
    * Cataract hypertrichosis mental retardation
    * Cataract mental retardation hypogonadism
    * Cataract microcornea syndrome
    * Cataract microphthalmia septal defect
    * Cataract skeletal anomalies
    * Cataract, alopecia, sclerodactyly
    * Cataract, autosomal recessive congenital 2
    * Cataract, congenital, with microcornea or slight microphthalmia
    * Cataract, congenital, with microphthalmia
    * Cataract, microphthalmia and nystagmus
    * Cataract, posterior polar, 1
    * Cataract, posterior polar, 5
    * Cataract, total congenital
    * Cataract, zonular
    * Cataract,posterior polar, 3
    * Cataract,posterior polar, 4
    * Cataract-glaucoma
    * Cataracts, ataxia, short stature, and mental retardation
    * Catastrophic Antiphospholipid Syndrome
    * Catatrichy
    * Catecholamine hypertension
    * Catel Manzke syndrome
    * Caudal appendage deafness
    * Caudal duplication
    * Caudal regression syndrome
    * Cavernous lymphangioma
    * Cayler cardiofacial syndrome
    * CCA syndrome
    * Ccge syndrome
    * CD3 deficiency
    * CD4 deficiency
    * CDG syndrome type 1A
    * CDG syndrome type 1B
    * CDG syndrome type 1C
    * CDG syndrome type 2
    * CDG syndrome type 3
    * CDG syndrome type 4
    * CDK4 linked melanoma
    * Cecato De lima Pinheiro syndrome
    * Celiac disease epilepsy occipital calcifications
    * Cennamo Gangemi syndrome
    * Central core disease
    * Central nervous system lymphoma, primary
    * Central nervous system protozoal infections
    * Central pontine myelinolysis
    * Central serous chorioretinopathy
    * Centromeric instability immunodeficiency syndrome
    * Centronuclear myopathy, congenital
    * Centrotemporal epilepsy
    * Cephalopolysyndactyly
    * Ceramide trihexosidosis
    * Cercarial Dermatitis
    * Cerebellar agenesis
    * Cerebellar ataxia
    * Cerebellar ataxia ectodermal dysplasia
    * Cerebellar ataxia infantile with progressive external ophthalmoplegia
    * Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
    * Cerebellar ataxia, dominant pure
    * Cerebellar degeneration
    * Cerebellar degeneration, subacute
    * Cerebellar hypoplasia
    * Cerebellar hypoplasia tapetoretinal degeneration
    * Cerebellar hypoplasia with endosteal sclerosis
    * Cerebellar parenchymal degeneration
    * Cerebelloolivary atrophy
    * Cerebelloparenchymal disorder 3
    * Cerebellum agenesis hydrocephaly
    * Cerebral Amyloid Angiopathy, Familial
    * Cerebral aneurysm
    * Cerebral astrocytoma, adult
    * Cerebral calcification cerebellar hypoplasia
    * Cerebral calcifications opalescent teeth phosphaturia
    * Cerebral cavernous hemangioma
    * Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
    * Cerebral gigantism jaw cysts
    * Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
    * Cerebral palsy, spastic, diplegic
    * Cerebral sarcoma
    * Cerebral ventricle neoplasm
    * Cerebro facio thoracic dysplasia
    * Cerebro oculo dento auriculo skeletal syndrome
    * Cerebro oculo genital syndrome
    * Cerebro oculo skeleto renal syndrome
    * Cerebro reno digital syndrome
    * Cerebro-costo-mandibular syndrome
    * Cerebro-oculo-facio-skeletal syndrome
    * Cerebroretinal vasculopathy
    * Cerebrospinal fluid leak
    * Cerebrotendinous xanthomatosis
    * Ceroid lipofuscinosis, neuronal
    * Ceroid lipofuscinosis, neuronal 1, infantile
    * Ceroid lipofuscinosis, neuronal 2, late infantile type
    * Ceroid lipofuscinosis, neuronal 3, Juvenile
    * Ceroid lipofuscinosis, neuronal 4
    * Ceroid lipofuscinosis, neuronal 5
    * Ceroid lipofuscinosis, neuronal 6, late infantile
    * Ceroid lipofuscinosis, neuronal 8
    * Ceroid lipofuscinosis, neuronal 9
    * Ceroid storage disease
    * Cerulean cataract
    * Cervical hypertrichosis neuropathy
    * Cervical hypertrichosis peripheral neuropathy
    * Cervical intraepithelial neoplasia
    * Cervical ribs sprengel anomaly anal atresia urethral obstruction
    * Cervical vertebral fusion
    * Cervicooculoacoustic syndrome
    * Chagas disease
    * Chalazion
    * Chancroid
    * Chandler's syndrome
    * CHANDS
    * Chang Davidson Carlson syndrome
    * Chaotic atrial tachycardia
    * Char syndrome
    * Charcot Marie Tooth disease
    * Charcot Marie Tooth disease deafness recessive type
    * Charcot Marie Tooth type 1 aplasia cutis congenita
    * Charcot-Marie-Tooth disease and deafness
    * Charcot-Marie-Tooth disease with ptosis and parkinsonism
    * Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant
    * Charcot-Marie-Tooth disease, dominant intermediate 1
    * Charcot-Marie-Tooth disease, dominant intermediate 2
    * Charcot-Marie-Tooth disease, dominant intermediate 3
    * Charcot-Marie-Tooth disease, neuronal, type A
    * Charcot-Marie-Tooth disease, neuronal, type B
    * Charcot-Marie-Tooth disease, neuronal, type D
    * Charcot-Marie-Tooth disease, Type 1A
    * Charcot-Marie-Tooth disease, Type 1B
    * Charcot-Marie-Tooth disease, Type 1C
    * Charcot-Marie-Tooth disease, Type 1D
    * Charcot-Marie-Tooth disease, Type 1E
    * Charcot-Marie-Tooth disease, Type 1F
    * Charcot-Marie-Tooth disease, Type 2A
    * Charcot-Marie-Tooth disease, Type 2B
    * Charcot-Marie-Tooth disease, Type 2B1
    * Charcot-Marie-Tooth disease, Type 2B2
    * Charcot-Marie-Tooth disease, Type 2C
    * Charcot-Marie-Tooth disease, Type 2D
    * Charcot-Marie-Tooth disease, Type 2E
    * Charcot-Marie-Tooth disease, Type 2F
    * Charcot-Marie-Tooth disease, Type 2G
    * Charcot-Marie-Tooth disease, Type 2H
    * Charcot-Marie-Tooth disease, Type 2I
    * Charcot-Marie-Tooth disease, Type 2J
    * Charcot-Marie-Tooth disease, Type 2K
    * Charcot-Marie-Tooth disease, Type 4A
    * Charcot-Marie-Tooth disease, Type 4B1
    * Charcot-Marie-Tooth disease, Type 4B2
    * Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
    * Charcot-Marie-Tooth disease, Type 4C
    * Charcot-Marie-Tooth disease, Type 4E
    * Charcot-Marie-Tooth disease, X-linked recessive, 2
    * Charcot-Marie-Tooth disease, X-linked recessive, 3
    * Charcot-Marie-Tooth disease, X-linked, 1
    * CHARGE syndrome
    * Charlie M syndrome
    * Chavany-Brunhes syndrome
    * Chediak-Higashi syndrome
    * Cheilitis glandularis
    * Chemke Oliver Mallek syndrome
    * Cherubism
    * Chiari-Frommel syndrome
    * Chicken pox
    * Chikungunya
    * CHILD syndrome ichthyosis
    * Childhood disintegrative disorder
    * Childhood-onset cerebral X-linked adrenoleukodystrophy
    * Childhood-Onset Schizophrenia
    * Chitayat Haj Chahine syndrome
    * Chitayat Meunier Hodgkinson syndrome
    * Chitayat Moore Del Bigio syndrome
    * Chitty Hall Baraitser syndrome
    * Chitty Hall Webb syndrome
    * Choanal atresia deafness cardiac defects dysmorphia
    * Cholecystitis
    * Choledochal cyst, hand malformation
    * Cholemia, familial
    * Cholera
    * Cholestasis
    * Cholestasis pigmentary retinopathy cleft palate
    * Cholestasis, benign recurrent intrahepatic 1
    * Cholestasis, benign recurrent intrahepatic 2
    * Cholestasis, intrahepatic of pregnancy
    * Cholestasis, progressive familial intrahepatic 1
    * Cholestasis, progressive familial intrahepatic 2
    * Cholestasis, progressive familial intrahepatic 3
    * Cholestasis, progressive familial intrahepatic 4
    * Cholestatic jaundice renal tubular insufficiency
    * Cholesterol esterification disorder
    * Cholesterol pneumonia
    * Chondroblastoma (benign)
    * Chondrocalcinosis 1
    * Chondrocalcinosis 2
    * Chondrocalcinosis due to Apatite crystal deposition
    * Chondrodysplasia
    * Chondrodysplasia lethal recessive
    * Chondrodysplasia pseudohermaphrodism syndrome
    * Chondrodysplasia punctata
    * Chondrodysplasia punctata with steroid sulfatase deficiency
    * Chondrodysplasia punctata, brachytelephalangic
    * Chondrodysplasia punctata, humero-metacarpal type
    * Chondrodysplasia punctata, Sheffield type
    * Chondrodysplasia situs inversus imperforate anus polydactyly
    * Chondrodysplasia, acromesomelic, with genital anomalies
    * Chondrodysplasia, blomstrand type
    * Chondrodysplasia, Grebe type
    * Chondrodystrophy
    * Chondroectodermal dysplasia
    * Chondroma (benign)
    * Chondromalacia
    * Chondromatosis (benign)
    * Chondrosarcoma
    * Chordoma
    * Chorea familial benign
    * Chorea minor
    * Chorea, remitting with nystagmus and cataracts
    * Choreoacanthocytosis
    * Choreoacanthocytosis amyotrophic
    * Choriocarcinoma
    * Chorioretinal atrophy, progressive bifocal
    * Chorioretinitis
    * Chorioretinopathy dominant form microcephaly
    * Choroid plexus calcification with mental retardation
    * Choroid plexus cyst
    * Choroid Plexus neoplasms
    * Choroidal dystrophy central areolar
    * Choroideremia
    * Choroideremia hypopituitarism
    * Choroiditis
    * Choroiditis, serpiginous
    * Christian Demyer Franken syndrome
    * Christian Johnson Angenieta syndrome
    * Christian syndrome
    * Chromomycosis
    * Chromophil renal cell carcinoma
    * Chromophobe renal cell carcinoma
    * Chromosomal abnormalities
    * Chromosomal triplication
    * Chromosome 1 ring
    * Chromosome 1, 1p36 deletion syndrome
    * Chromosome 1, deletion q21 q25
    * Chromosome 1, duplication 1p21 p32
    * Chromosome 1, monosomy 1p
    * Chromosome 1, monosomy 1p22 p13
    * Chromosome 1, monosomy 1p31 p22
    * Chromosome 1, monosomy 1p32
    * Chromosome 1, monosomy 1p34 p32
    * Chromosome 1, monosomy 1q25 q32
    * Chromosome 1, monosomy 1q32 q42
    * Chromosome 1, monosomy 1q4
    * Chromosome 1, q42 11 q42 12 duplication
    * Chromosome 1, trisomy 1q32 qter
    * Chromosome 1, trisomy 1q42 qter
    * Chromosome 1, uniparental disomy 1q12 q21
    * Chromosome 10 ring
    * Chromosome 10, distal trisomy 10q
    * Chromosome 10, monosomy 10p
    * Chromosome 10, monosomy 10q
    * Chromosome 10, trisomy 10p
    * Chromosome 10, trisomy 10pter p13
    * Chromosome 10, uniparental disomy of
    * Chromosome 10p terminal deletion syndrome
    * Chromosome 11, deletion 11p
    * Chromosome 11, partial trisomy 11q
    * Chromosome 11;14 translocation
    * Chromosome 11p, partial deletion
    * Chromosome 11q partial deletion
    * Chromosome 11q trisomy
    * Chromosome 12 ring
    * Chromosome 12, 12p trisomy
    * Chromosome 12, trisomy 12q
    * Chromosome 12p deletion
    * Chromosome 12p partial deletion
    * Chromosome 13 ring
    * Chromosome 13, partial monosomy 13q
    * Chromosome 13p duplication
    * Chromosome 13q deletion
    * Chromosome 13q trisomy
    * Chromosome 13q-mosaicism
    * Chromosome 14 deletion
    * Chromosome 14 ring
    * Chromosome 14 trisomy
    * Chromosome 14, deletion 14q, partial duplication 14p
    * Chromosome 14, trisomy mosaic
    * Chromosome 14;16 translocation
    * Chromosome 14q, partial deletions
    * Chromosome 14q, proximal duplication
    * Chromosome 14q, terminal deletion
    * Chromosome 14q, terminal duplication
    * Chromosome 15 ring
    * Chromosome 15, distal trisomy 15q
    * Chromosome 15, trisomy mosaicism
    * Chromosome 15q duplication mosaicism
    * Chromosome 15q, partial deletion
    * Chromosome 15q, tetrasomy
    * Chromosome 15q, trisomy
    * Chromosome 16, trisomy
    * Chromosome 16, trisomy 16p
    * Chromosome 16, trisomy 16q
    * Chromosome 16, uniparental disomy
    * Chromosome 17 trisomy
    * Chromosome 17 deletion
    * Chromosome 17 ring
    * Chromosome 17, deletion 17q23 q24
    * Chromosome 17, duplication
    * Chromosome 17, trisomy 17p
    * Chromosome 17, trisomy 17p11 2
    * Chromosome 17, trisomy 17q22
    * Chromosome 18 deletion syndrome
    * Chromosome 18 mosaic monosomy
    * Chromosome 18 ring
    * Chromosome 18, deletion 18q23
    * Chromosome 18, tetrasomy 18p
    * Chromosome 18, trisomy 18p
    * Chromosome 18, trisomy 18q
    * Chromosome 18p deletion syndrome
    * Chromosome 19 ring
    * Chromosome 19 ring syndrome
    * Chromosome 19, trisomy 19q
    * Chromosome 1q deletion
    * Chromosome 1q, duplication 1q12 q21
    * Chromosome 2, monosomy 2p22
    * Chromosome 2, monosomy 2pter p24
    * Chromosome 2, monosomy 2q
    * Chromosome 2, monosomy 2q24
    * Chromosome 2, monosomy 2q37
    * Chromosome 2, trisomy 2p
    * Chromosome 2, trisomy 2p13 p21
    * Chromosome 2, trisomy 2pter p24
    * Chromosome 2, trisomy 2q
    * Chromosome 2, trisomy 2q37
    * Chromosome 20 ring
    * Chromosome 20, deletion 20p
    * Chromosome 20, duplication 20p
    * Chromosome 20, trisomy
    * Chromosome 21 monosomy
    * Chromosome 21 ring
    * Chromosome 21, monosomy 21q22
    * Chromosome 21, tetrasomy 21q
    * Chromosome 21, uniparental disomy of
    * Chromosome 22 ring
    * Chromosome 22 trisomy mosaic
    * Chromosome 22, microdeletion 22 q11
    * Chromosome 22, monosome mosaic
    * Chromosome 22, trisomy
    * Chromosome 22, trisomy q11 q13
    * Chromosome 22q deletion
    * Chromosome 22q13.3 deletion syndrome
    * Chromosome 2q37 deletion syndrome
    * Chromosome 3 duplication syndrome
    * Chromosome 3, monosomy 3p
    * Chromosome 3, monosomy 3p14 p11
    * Chromosome 3, monosomy 3p2
    * Chromosome 3, monosomy 3p25
    * Chromosome 3, monosomy 3q13
    * Chromosome 3, monosomy 3q21 23
    * Chromosome 3, monosomy 3q27
    * Chromosome 3, trisomy 3p
    * Chromosome 3, trisomy 3p25
    * Chromosome 3, trisomy 3q
    * Chromosome 3, trisomy 3q13 2 q25
    * Chromosome 3, Trisomy 3q2
    * Chromosome 4 ring syndrome
    * Chromosome 4 short arm deletion
    * Chromosome 4, monosomy 4p14 p16
    * Chromosome 4, monosomy 4q
    * Chromosome 4, monosomy 4q32
    * Chromosome 4, monosomy distal 4q
    * Chromosome 4, partial trisomy distal 4q
    * Chromosome 4, Trisomy 4p
    * Chromosome 4, trisomy 4q
    * Chromosome 4, trisomy 4q21
    * Chromosome 4, trisomy 4q25 qter
    * Chromosome 5, monosomy 5q35
    * Chromosome 5, trisomy 5p
    * Chromosome 5, trisomy 5pter p13 3
    * Chromosome 5, trisomy 5q
    * Chromosome 5, uniparental disomy
    * Chromosome 6 ring syndrome
    * Chromosome 6, deletion 6q13 q15
    * Chromosome 6, monosomy 6p23
    * Chromosome 6, monosomy 6q
    * Chromosome 6, monosomy 6q1
    * Chromosome 6, monosomy 6q2
    * Chromosome 6, partial trisomy 6q
    * Chromosome 6, trisomy 6p
    * Chromosome 6, trisomy 6q
    * Chromosome 7 ring syndrome
    * Chromosome 7, monosomy
    * Chromosome 7, monosomy 7q2
    * Chromosome 7, monosomy 7q21
    * Chromosome 7, monosomy 7q3
    * Chromosome 7, partial monosomy 7p
    * Chromosome 7, trisomy 7p
    * Chromosome 7, trisomy 7p13 p12 2
    * Chromosome 7, trisomy 7q
    * Chromosome 7, trisomy mosaic
    * Chromosome 8 deletion
    * Chromosome 8 ring
    * Chromosome 8, monosomy 8p
    * Chromosome 8, monosomy 8p2
    * Chromosome 8, monosomy 8p23 1
    * Chromosome 8, monosomy 8q
    * Chromosome 8, mosaic trisomy
    * Chromosome 8, partial trisomy
    * Chromosome 8, trisomy
    * Chromosome 8, trisomy 8p
    * Chromosome 8, trisomy 8q
    * Chromosome 9 inversion or duplication
    * Chromosome 9 Ring
    * Chromosome 9, deletion 9q21.33q22.32
    * Chromosome 9, duplication 9q21
    * Chromosome 9, monosomy 9p
    * Chromosome 9, partial monosomy 9p
    * Chromosome 9, partial trisomy 9p
    * Chromosome 9, tetrasomy 9p
    * Chromosome 9, trisomy
    * Chromosome 9, trisomy 9p
    * Chromosome 9, trisomy 9q
    * Chromosome 9, trisomy 9q32
    * Chromosome 9, trisomy mosaic
    * Chromosome 9q deletion syndrome
    * Chromosome 9q duplication
    * Chromosomes 1 and 2, monosomy 2q duplication 1p
    * Chronic berylliosis
    * Chronic demyelinizing neuropathy with IgM monoclonal
    * Chronic erosive gastritis
    * Chronic granulomatous disease
    * Chronic hiccup
    * Chronic inflammatory demyelinating polyneuropathy
    * Chronic lymphocytic leukemia
    * Chronic myelogenous leukemia
    * Chronic myelomonocytic leukemia
    * Chronic Myeloproliferative Disorders
    * Chronic necrotizing vasculitis
    * Chronic neutropenia
    * Chronic polyradiculoneuritis
    * Chronic recurrent multifocal osteomyelitis
    * Chronic, Infantile, Neurological, Cutaneous, Articular syndrome
    * Chudley Rozdilsky syndrome
    * Chudley-Mccullough syndrome
    * Churg-Strauss syndrome
    * Chylomicron retention disease
    * Chylothorax, congenital
    * Chylous ascites
    * Cicatricial pemphigoid
    * Ciguatera fish poisoning
    * Ciliary discoordination, due to random ciliary orientation
    * Ciliary dyskinesia, due to transposition of ciliary microtubules
    * Ciliary dyskinesia-bronchiectasis
    * Cilliers Beighton syndrome
    * Circumscribed cutaneous aplasia of the vertex
    * Circumscribed disseminated keratosis Jadassohn Lew type
    * Citrin deficiency
    * Citrulline transport defect
    * Clark-Baraitser syndrome
    * Classic citrullinemia
    * Clayton-Smith Donnai syndrome
    * Clear cell renal cell carcinoma
    * Cleft hand absent tibia
    * Cleft lip and palate malrotation cardiopathy
    * Cleft lip and/or palate with mucous cysts of lower
    * Cleft lip palate abnormal thumbs microcephaly
    * Cleft lip palate deafness sacral lipoma
    * Cleft lip palate dysmorphism Kumar type
    * Cleft lip palate ectrodactyly
    * Cleft lip palate incisor and finger anomalies
    * Cleft lip palate mental retardation corneal opacity
    * Cleft lip palate oligodontia syndactyly pili torti
    * Cleft lip palate pituitary deficiency
    * Cleft lip palate-tetraphocomelia
    * Cleft lower lip cleft lateral canthi chorioretinal
    * Cleft palate cardiac defect ectrodactyly
    * Cleft palate colobomata radial synostosis deafness
    * Cleft palate heart disease polydactyly absent tibia
    * Cleft palate lateral synechia syndrome
    * Cleft palate short stature vertebral anomalies
    * Cleft palate stapes fixation oligodontia
    * Cleft palate X-linked
    * Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
    * Cleft tongue syndrome
    * Cleft upper lip median cutaneous polyps
    * Cleidocranial dysplasia
    * Cleidorhizomelic syndrome
    * C-like syndrome
    * Cloacal exstrophy
    * Clostridium sordellii
    * Cloverleaf skull micromelia thoracic dysplasia
    * Cluttering
    * CMV antenatal infection
    * COACH syndrome
    * Coal worker's pneumoconiosis
    * Coarctation of aorta dominant
    * Coarse face hypotonia constipation
    * Coats disease
    * Cocaine antenatal infection
    * Cocaine fetopathy
    * Coccidioidomycosis
    * Cochleosaccular degeneration of the inner ear and progressive cataracts
    * Cockayne syndrome type C
    * Cockayne syndrome, type A
    * Cockayne syndrome, type B
    * Cockayne's syndrome
    * CODAS syndrome
    * Coenzyme Q cytochrome c reductase deficiency of
    * Coffin syndrome 1
    * Coffin-Lowry syndrome
    * Coffin-Siris syndrome
    * COFS syndrome
    * Cogan-Reese syndrome
    * Cogan's syndrome
    * Cohen Hayden syndrome
    * Cohen Lockood Wyborney syndrome
    * Cohen syndrome
    * Cold agglutination syndrome
    * Cold agglutinin disease
    * Cold contact urticaria
    * Cole Carpenter syndrome
    * Coleman Randall syndrome
    * Collagenopathy, type 2 alpha 1
    * Collagenous colitis
    * Collecting duct carcinoma
    * Collins Pope syndrome
    * Collins Sakati syndrome
    * Colloid cysts of third ventricle
    * Coloboma chorioretinal cerebellar vermis aplasia
    * Coloboma hair abnormality
    * Coloboma of Alar-nasal cartilages with telecanthus
    * Coloboma of choroid and retina
    * Coloboma of eye lens
    * Coloboma of iris
    * Coloboma of lens ala nasi
    * Coloboma of macula
    * Coloboma of macula type B brachydactyly
    * Coloboma of optic nerve
    * Coloboma of optic papilla
    * Coloboma porencephaly hydronephrosis
    * Coloboma, cleft lip/palate and mental retardation syndrome
    * Colobomata unilobar lung heart defect
    * Colobomatous microphthalmia heart disease hearing
    * Colonic atresia
    * Colonic malakoplakia
    * Colorectal cancer, hereditary nonpolyposis, type 1
    * Colpocephaly
    * Colver Steer Godman syndrome
    * Combarros Calleja Leno syndrome
    * Combined hyperlipidemia, familial
    * Common mesentery
    * Common variable immunodeficiency
    * Compartment syndrome
    * Complement component 2 deficiency
    * Complement component deficiency
    * Complement component receptor 1
    * Complement receptor deficiency
    * Complete atrioventricular canal
    * Complex 1 mitochondrial respiratory chain deficiency
    * Complex 2 mitochondrial respiratory chain deficiency
    * Complex 3 mitochondrial respiratory chain deficiency
    * Complex 4 mitochondrial respiratory chain deficiency
    * Complex 5 mitochondrial respiratory chain deficiency
    * Conductive deafness malformed external ear
    * Conductive hearing loss
    * Condyloma
    * Condyloma acuminatum
    * Cone dystrophy
    * Cone dystrophy, x-linked, with tapetal-like sheen
    * Cone rod dystrophy
    * Cone rod dystrophy amelogenesis imperfecta
    * Congenital absence of the sternocleidomastoid muscle
    * Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
    * Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
    * Congenital adrenal hyperplasia type 2
    * Congenital afibrinogenemia
    * Congenital alopecia X-linked
    * Congenital amegakaryocytic thrombocytopenia
    * Congenital amputation
    * Congenital aneurysms of the great vessels
    * Congenital anosmia
    * Congenital antithrombin 3 deficiency
    * Congenital aplastic anemia
    * Congenital arteriovenous shunt
    * Congenital articular rigidity
    * Congenital benign spinal muscular atrophy dominant
    * Congenital bilateral aplasia of vas deferens
    * Congenital bronchobiliary fistula
    * Congenital cardiovascular malformations
    * Congenital cardiovascular shunt
    * Congenital central hypoventilation syndrome
    * Congenital chloride diarrhea
    * Congenital contractural arachnodactyly
    * Congenital contractures
    * Congenital craniosynostosis maternal hyperthyroiditis
    * Congenital cystic eye multiple ocular and intracranial anomalies
    * Congenital cytomegalovirus
    * Congenital deafness
    * Congenital diaphragmatic hernia
    * Congenital dislocation of the patella
    * Congenital disorder of glycosylation type 1A
    * Congenital disorder of glycosylation type 1B
    * Congenital disorder of glycosylation type 1C
    * Congenital disorder of glycosylation type 1D
    * Congenital disorder of glycosylation type 1E
    * Congenital disorder of glycosylation type 1F
    * Congenital disorder of glycosylation type 1G
    * Congenital disorder of glycosylation type 1H
    * Congenital disorder of glycosylation type 1I
    * Congenital disorder of glycosylation type 1J
    * Congenital disorder of glycosylation type 1K
    * Congenital disorder of glycosylation type 1L
    * Congenital disorder of glycosylation type 1X
    * Congenital disorder of glycosylation type 2A
    * Congenital disorder of glycosylation type 2D
    * Congenital disorder of glycosylation type 2E
    * Congenital disorder of glycosylation, type 2C
    * Congenital disorder of glycosylation, type 2G
    * Congenital ectodermal dysplasia with hearing loss
    * Congenital fiber type disproportion
    * Congenital generalized fibromatosis
    * Congenital generalized lipodystrophy type 1
    * Congenital generalized lipodystrophy type 2
    * Congenital giant megaureter
    * Congenital heart block
    * Congenital heart disease ptosis hypodontia craniostosis
    * Congenital heart disease radio ulnar synostosis mental retardation
    * Congenital heart septum defect
    * Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects
    * Congenital hemolytic anemia
    * Congenital hepatic fibrosis
    * Congenital herpes simplex
    * Congenital hypomyelination neuropathy
    * Congenital hypothyroidism
    * Congenital hypotrichosis milia
    * Congenital ichthyosis, microcephalus, quadriplegia
    * Congenital ichtyosiform erythroderma
    * Congenital megacolon
    * Congenital megalo-ureter
    * Congenital mesoblastic nephroma
    * Congenital microvillous atrophy
    * Congenital mitral malformation
    * Congenital mitral stenosis
    * Congenital mixovirus
    * Congenital mumps
    * Congenital Muscular dystrophy
    * Congenital muscular dystrophy syringomyelia
    * Congenital myasthenic syndrome with episodic apnea
    * Congenital myopathy
    * Congenital myotonic dystrophy
    * Congenital nephrotic syndrome, Finnish type
    * Congenital nonhemolytic jaundice
    * Congenital pseudoarthrosis
    * Congenital short bowel
    * Congenital short femur
    * Congenital spherocytic anemia
    * Congenital spherocytic hemolytic anemia
    * Congenital stenosis of cervical medullary canal
    * Congenital sucrose isomaltose malabsorption
    * Congenital thrombotic disease, due to Protein C deficiency
    * Congenital torticollis
    * Congenital unilateral pulmonary hypoplasia
    * Congenital vagal hyperreflexivity
    * Congenital varicella syndrome
    * Congenitally corrected transposition of the great arteries
    * Conjunctivitis ligneous
    * Conjunctivitis with Pseudomembrane
    * Connective tissue dysplasia Spellacy type
    * Connexin 26 anomaly
    * Conn's syndrome
    * Conorenal Syndrome
    * Conotruncal heart malformations
    * Conradi-Hunermann syndrome
    * Constrictive bronchiolitis
    * Continuous muscle fiber activity hereditary
    * Continuous spike-wave during slow sleep syndrome
    * Contractures ectodermal dysplasia cleft lip palate
    * Conversion disorder
    * Convulsions benign familial neonatal dominant form
    * Convulsions, benign familial infantile, 1
    * Copper deficiency, familial benign
    * Coproporphyria
    * CoQ-responsive OXPHOS deficiency
    * Cor biloculare
    * Cor triatriatum
    * Cormier Rustin Munnich syndrome
    * Cornea guttata with anterior polar cataract
    * Corneal anesthesia deafness mental retardation
    * Corneal cerebellar syndrome
    * Corneal crystals myopathy neuropathy
    * Corneal dystrophy
    * Corneal dystrophy and perceptive deafness
    * Corneal dystrophy Avellino type
    * Corneal dystrophy crystalline of Schnyder
    * Corneal dystrophy ichthyosis microcephaly mental retardation
    * Corneal dystrophy of Bowman layer, type 1
    * Corneal dystrophy pigmentary anomaly malabsorption
    * Corneal dystrophy, epithelial basement membrane
    * Corneal dystrophy, Fuchs' endothelial, 1
    * Corneal dystrophy, Fuchs' endothelial, 2
    * Corneal dystrophy, gelatinous drop-like
    * Corneal dystrophy, juvenile epithelial of Meesmann
    * Corneal dystrophy, Thiel-Behnke type
    * Corneal endothelial dystrophy type 2
    * Corneal hypesthesia, familial
    * Cornelia de Lange syndrome 1
    * Cornelia de Lange syndrome 2
    * Cornelia de Lange syndrome 3
    * Corneodermatoosseous syndrome
    * Coronal synostosis, syndactyly and jejunal atresia
    * Coronaro-cardiac fistula
    * Coronary arteries congenital malformation
    * Coronary artery aneurysm
    * Corpus callosum agenesis
    * Corpus callosum agenesis double urinary collecting
    * Corpus callosum agenesis neuronopathy
    * Corpus callosum agenesis of blepharophimosis Robin type
    * Corpus callosum agenesis polysyndactyly
    * Corpus callosum dysgenesis cleft spasm
    * Corpus callosum dysgenesis hypopituitarism
    * Corpus callosum dysgenesis X-linked recessive
    * Corsello Opitz syndrome
    * Cortada Koussef Matsumoto syndrome
    * Cortes Lacassie syndrome
    * Cortical blindness mental retardation polydactyly
    * Cortical hyperostosis syndactyly
    * Corticobasal degeneration
    * Cortisone reductase deficiency
    * Costello syndrome
    * Costocoracoid ligament congenitally short
    * Cote Katsantoni syndrome
    * Cousin Walbraum Cegarra syndrome
    * Covesdem syndrome
    * Cowchock syndrome
    * Cowden's disease
    * Coxa vara, congenital
    * Coxoauricular syndrome
    * Cramer Niederdellmann syndrome
    * Cramp-fasciculations syndrome
    * Crandall syndrome
    * Crane-Heise syndrome
    * Cranio osteoarthropathy
    * Cranioacrofacial syndrome
    * Craniodiaphyseal dysplasia
    * Craniodigital syndrome mental retardation
    * Cranioectodermal dysplasia
    * Craniofacial and skeletal defects
    * Craniofacial deafness hand syndrome
    * Craniofacial dysostosis arthrogryposis progeroid appearence
    * Craniofacial dysostosis type 1
    * Craniofacial dyssynostosis
    * Craniofaciocardioskeletal syndrome
    * Craniofaciocervical osteoglyphic dysplasia
    * Craniofrontonasal dysplasia
    * Craniofrontonasal syndrome Teebi type
    * Craniometaphyseal dysplasia dominant type
    * Craniometaphyseal dysplasia, autosomal recessive type
    * Craniomicromelic syndrome
    * Craniostenosis cataract
    * Craniostenosis with congenital heart disease mental retardation
    * Craniosynostosis
    * Craniosynostosis alopecia brain defect
    * Craniosynostosis arthrogryposis cleft palate
    * Craniosynostosis autosomal dominant
    * Craniosynostosis cleft lip palate arthrogryposis
    * Craniosynostosis contractures cleft
    * Craniosynostosis exostoses nevus epibulbar dermoid
    * Craniosynostosis fibular aplasia
    * Craniosynostosis Fontaine type
    * Craniosynostosis Maroteaux Fonfria type
    * Craniosynostosis mental retardation clefting syndrome
    * Craniosynostosis mental retardation heart defects
    * Craniosynostosis Philadelphia type
    * Craniosynostosis radial aplasia syndrome
    * Craniosynostosis synostoses hypertensive nephropathy
    * Craniosynostosis Warman type
    * Craniosynostosis, anal anomalies, and porokeratosis
    * Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus
    * Craniotelencephalic dysplasia
    * Crawfurd syndrome
    * Creatine deficiency, X-linked
    * Creeping disease
    * CREST syndrome
    * Cretinism
    * Cretinism athyreotic
    * Creutzfeldt Jakob disease
    * Cri du chat syndrome
    * Crigler Najjar syndrome, type 1
    * Crigler Najjar syndrome, type 2
    * Crisponi syndrome
    * Crohn’s disease, pediatric
    * Crohn's disease of the esophagus
    * Crome syndrome
    * Cronkhite-Canada disease
    * Crossed polydactyly type 1
    * Crossed polysyndactyly
    * Crumpled helices and small mouth
    * Cryofibrinogenemia
    * Cryptococcosis
    * Cryptogenic organized pneumopathy
    * Cryptomicrotia brachydactyly syndrome
    * Cryptorchidism arachnodactyly mental retardation
    * Cryptosporidiosis
    * Crystal deposit disease
    * Culler Jones syndrome
    * Curly hair ankyloblepharon nail dysplasia syndrome
    * Curly hair-acral keratoderma-caries syndrome
    * Currarino triad
    * Curry Hall syndrome
    * Curtis Rogers Stevenson syndrome
    * Cushing syndrome, familial
    * Cushing's symphalangism
    * Cutaneous anthrax
    * Cutaneous larva migrans
    * Cutaneous lupus erythematosus
    * Cutaneous photosensitivity and colitis, lethal
    * Cutaneous T-cell lymphoma
    * Cutaneous vascularitis
    * Cutis Gyrata syndrome of Beare and Stevenson
    * Cutis gyratum acanthosis nigricans craniosynostosis
    * Cutis laxa
    * Cutis laxa corneal clouding mental retardation
    * Cutis laxa osteoporosis
    * Cutis laxa with joint laxity and retarded development
    * Cutis laxa, dominant type
    * Cutis laxa, recessive
    * Cutis laxa, recessive type 2
    * Cutis marmorata telangiectatica congenita
    * Cutis verticis gyrata
    * Cutis verticis gyrata mental deficiency
    * Cutler Bass Romshe syndrome
    * Cyclic neutropenia
    * Cyclic vomiting syndrome
    * Cyclosporiasis
    * Cyclosporosis
    * Cyprus facial neuromusculoskeletal syndrome
    * Cystic adenomatoid malformation of lung
    * Cystic angiomatosis of bone, diffuse
    * Cystic fibrosis
    * Cystic fibrosis gastritis megaloblastic anemia
    * Cystic hamartoma of lung and kidney
    * Cystic hygroma
    * Cystic hygroma lethal cleft palate
    * Cystic medial necrosis of aorta
    * Cysticercosis
    * Cystin transport, protein defect of
    * Cystinosis
    * Cystinosis, ocular nonnephropathic
    * Cystinuria
    * Cystinuria-lysinuria
    * Cystosarcoma phyllodes
    * Cytochrome C oxidase deficiency
    * Cytokine deficiency
    * Cytokine receptor deficiency
    * Cytomegalic inclusion disease
    * Cytomegalovirus
    * Cytomegalovirus retinitis
    * Cytoplasmic body myopathy
    * Czech dysplasia, metatarsal type
    * Czeizel Losonci syndrome
    * Czeizel syndrome


    D


    * D ercole syndrome
    * Daentl Towsend Siegel syndrome
    * Dahlberg Borer Newcomer syndrome
    * Daish Hardman Lamont syndrome
    * Dancing eyes-dancing feet syndrome
    * Dandy Walker facial hemangioma
    * Dandy Walker malformation postaxial polydactyly
    * Dandy Walker syndrome
    * Dandy Walker syndrome recessive form
    * Dandy Walker variant
    * Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures
    * Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
    * Daneman Davy Mancer syndrome
    * Danubian endemic familial nephropathy
    * Darier's disease
    * Davenport Donlan syndrome
    * Davis Lafer syndrome
    * De Barsy syndrome
    * De Hauwere Leroy Adriaenssens syndrome
    * De Quervains' disease
    * De Sanctis-Cacchione syndrome
    * Deafness conductive ptosis skeletal anomalies
    * Deafness conductive stapedial ear malformation facial palsy
    * Deafness craniofacial syndrome
    * Deafness enamel hypoplasia nail defects
    * Deafness epiphyseal dysplasia short stature
    * Deafness goiter stippled epiphyses
    * Deafness hyperuricemia neurologic ataxia
    * Deafness hypogonadism syndrome
    * Deafness hypospadias metacarpal and metatarsal syndrome
    * Deafness mesenteric diverticula of small bowel neuropathy
    * Deafness mixed with perilymphatic Gusher, X-linked
    * Deafness nephritis ano rectal malformation
    * Deafness neurosensory pituitary dwarfism
    * Deafness nonsyndromic, Connexin 26 linked
    * Deafness oligodontia syndrome
    * Deafness onychodystrophy dominant form
    * Deafness peripheral neuropathy arterial disease
    * Deafness progressive cataract autosomal dominant
    * Deafness skeletal dysplasia lip granuloma
    * Deafness vitiligo achalasia
    * Deafness white hair contractures papillomas
    * Deafness X-linked, DFN3
    * Deafness, autosomal dominant nonsyndromic sensorineural 17
    * Deafness, autosomal dominant nonsyndromic sensorineural 22
    * Deafness, autosomal dominant nonsyndromic sensorineural 23
    * Deafness, autosomal dominant nonsyndromic sensorineural 24
    * Deafness, autosomal dominant nonsyndromic sensorineural 3
    * Deafness, autosomal dominant nonsyndromic sensorineural 53
    * Deafness, autosomal recessive 51
    * Deafness, autosomal recessive 55
    * Deafness, congenital onychodystrophy, recessive form
    * Deafness, isolated, due to mitochondrial transmission
    * Deafness, neurosensory nonsyndromic recessive, DFN
    * Deafness, neurosensory, autosomal recessive 47
    * Deafness, X-linked, DFN
    * Deal Barratt Dillon syndrome
    * Defect in synthesis of adenosylcobalamin
    * Defective apolipoprotein B-100
    * Degenerative motor system disease
    * Degenerative optic myopathy
    * Degos disease
    * Degos 'en cocarde' erythrokeratoderma
    * Dehydratase deficiency
    * Delayed membranous cranial ossification
    * Delayed speech facial asymetry strabismus ear lobe creases
    * Deletion 6q16 q21
    * Delleman Oorthuys syndrome
    * Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
    * Delta-sarcoglycanopathy
    * Dementia, familial British
    * Dementia, familial Danish
    * Demodicidosis
    * Demyelinating diseases
    * Dengue fever
    * Dennis Fairhurst Moore syndrome
    * Dens in dente and palatal invaginations
    * Dent disease 1
    * Dentatorubral pallidoluysian atrophy
    * Dentin dysplasia sclerotic bones
    * Dentin dysplasia, coronal
    * Dentin dysplasia, type 1
    * Dentinogenesis imperfecta
    * Dentinogenesis imperfecta, shields type 3
    * Depersonalization disorder
    * Der Kaloustian Mcintosh Silver syndrome
    * Dermatitis herpetiformis, familial
    * Dermatocardioskeletal syndrome Boronne type
    * Dermatofibroma
    * Dermatofibrosarcoma protuberans
    * Dermatoleukodystrophy
    * Dermatomyositis
    * Dermatoosteolysis Kirghizian type
    * Dermatopathia pigmentosa reticularis
    * Dermochondrocorneal dystrophy of François
    * Dermoids of cornea
    * Dermoodontodysplasia
    * Desbuquois syndrome
    * Desmin related myopathy
    * Desmoid disease, hereditary
    * Desmoid tumor
    * Desmoplastic cerebral astrocytoma of infancy
    * Desmoplastic infantile ganglioma
    * Desmoplastic small round cell tumor
    * Developmental delay hypotonia extremities hypertrophy
    * Developmental dysphasia familial
    * Devic disease
    * Devriendt Legius Fryns syndrome
    * Devriendt syndrome
    * Devriendt Vandenberghe Fryns syndrome
    * Dexamethasone sensitive hypertension
    * Dextrocardia
    * Dextrocardia with situs inversus
    * Dextrocardia-bronchiectasis-sinusitis
    * D-glycericacidemia
    * Di Guglielmo's syndrome
    * Diabetes hypogonadism deafness mental retardation
    * Diabetes insipidus primary central
    * Diabetes insipidus, diabetes mellitus, optic atrophy
    * Diabetes insipidus, nephrogenic type 1
    * Diabetes insipidus, nephrogenic type 2
    * Diabetes insipidus, nephrogenic type 3
    * Diabetes insipidus, nephrogenic with mental retardation and intracerebral calcification
    * Diabetes insipidus, nephrogenic, dominant type
    * Diabetes insipidus, nephrogenic, recessive type
    * Diabetes mellitus, transient neonatal
    * Diabetes persistent mullerian ducts
    * Diamond Blackfan anemia
    * Dianzani autoimmune lymphoproliferative syndrome
    * Diaphragmatic agenesia
    * Diaphragmatic agenesis radial aplasia omphalocele
    * Diaphragmatic defect limb deficiency skull defect
    * Diaphragmatic hernia exomphalos corpus callosum agenesis
    * Diaphragmatic hernia upper limb defects
    * Diaphyseal medullary stenosis with malignant fibrous histiocytoma
    * Diarrhea chronic with villous atrophy
    * Diarrhea polyendocrinopathy infections X-linked
    * Diastematomyelia
    * Diastrophic dysplasia
    * Dibasic aminoaciduria 1
    * Dibasic aminoaciduria 2
    * Dicarboxylicaminoaciduria
    * Die Smulders Droog Van Dijk syndrome
    * Die Smulders Vles Fryns syndrome
    * Diencephalic syndrome
    * Dieterich's disease
    * Diethylstilbestrol antenatal infection
    * Diffuse idiopathic skeletal hyperostosis
    * Diffuse neonatal hemangiomatosis
    * Diffuse palmoplantar keratoderma, Bothnian type
    * Diffuse panbronchiolitis
    * Diffuse systemic sclerosis
    * DiGeorge syndrome
    * Digestive duplication
    * Digitorenocerebral syndrome
    * Dihydropyrimidine dehydrogenase deficiency
    * Dilated cardiomyopathy
    * Dimauro disease
    * Dincsoy Salih Patel syndrome
    * Dinno Shearer Weisskopf syndrome
    * Diomedi Bernardi Placidi syndrome
    * Dionisi Vici Sabetta Gambarara syndrome
    * Diphallia
    * Diphallus rachischisis imperforate anus
    * Diphosphoglycerate mutase deficiency of erythrocyte
    * Diphtheria
    * Diprosopia
    * Dislocation of the hip dysmorphism
    * Dissecting cellulitis of the scalp
    * Disseminated infection with mycobacterium avium complex
    * Dissociative hysteria
    * Distal arthrogryposis Moore Weaver type
    * Distal myopathy
    * Distal myopathy Markesbery-Griggs type
    * Distal myopathy with vocal cord weakness
    * Distal myopathy, Nonaka type
    * Distal primary acidosis, familial
    * Distichiasis heart congenital anomalies
    * Distomatosis
    * Dk phocomelia syndrome
    * D-minus hemolytic uremic syndrome (D-HUS)
    * Dobrow syndrome
    * Dominant cleft palate
    * Dominant ichthyosis vulgaris
    * Donnai Barrow syndrome
    * Donovanosis
    * Dopamine beta hydroxylase deficiency
    * Dosage-sensitive sex reversal
    * Double cortex syndrome
    * Double discordia
    * Double fingernail of fifth finger
    * Double nails on the fifth toe
    * Double outlet left ventricle
    * Double outlet right ventricle
    * Double tachycardia induced by catecholamines
    * Double uterus-hemivagina-renal agenesis
    * Dowling-Degos disease
    * Doxorubicin induced cardiomyopathy
    * Doyne honeycomb retinal dystrophy
    * D-plus hemolytic uremic syndrome (D+HUS)
    * Drachtman Weinblatt Sitarz syndrome
    * Dracunculiasis
    * Duane anomaly mental retardation
    * Duane retraction syndrome 1
    * Duane retraction syndrome 2
    * Duane-radial ray syndrome
    * Dubin-Johnson syndrome
    * Dubowitz syndrome
    * Duchenne muscular dystrophy
    * Duhring Brocq disease
    * Duhring's disease
    * Duker Weiss Siber syndrome
    * Duodenal atresia
    * Duodenal atresia tetralogy of Fallot
    * Duodenal ulcer due to antral G-cell hyperfunction
    * Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery
    * Duplication of leg mirror foot
    * Duplication of the thumb unilateral biphalangeal
    * Duplication of urethra
    * Dupont Sellier Chochillon syndrome
    * Dupuytren subungual exostosis
    * Dupuytren's contracture
    * Dwarfism
    * Dwarfism bluish sclerae
    * Dwarfism deafness retinitis pigmentosa
    * Dwarfism lethal type advanced bone age
    * Dwarfism short limb absent fibulas very short digits
    * Dwarfism stiff joint ocular abnormalities
    * Dwarfism syndesmodysplasic
    * Dwarfism tall vertebrae
    * Dwarfism thin bones multiple fractures
    * Dyggve-Melchior-Clausen syndrome
    * Dykes Markes Harper syndrome
    * Dysautonomia like disorder
    * Dyschondrosteosis nephritis
    * Dyschromatosis symmetrica hereditaria 1
    * Dyschromatosis universalis hereditaria
    * Dysequilibrium syndrome
    * Dyserythropoietic anemia, congenital
    * Dyserythropoietic anemia, congenital type 1
    * Dyserythropoietic anemia, congenital type 2
    * Dyserythropoietic anemia, congenital type 3
    * Dysesthetic Vulvodynia
    * Dysferlinopathy
    * Dysfibrinogenemia, familial
    * Dysgerminoma
    * Dysgnathia complex
    * Dysharmonic skeletal maturation muscular fiber disproportion
    * Dyskeratosis congenita
    * Dyskeratosis congenita of Zinsser Cole Engman
    * Dyskeratosis follicularis
    * Dyskinesia, drug induced
    * Dysmorphism abnormal vocalization mental retardation
    * Dysmorphism cleft palate loose skin
    * Dysmyelination
    * Dysosteosclerosis
    * Dysostosis
    * Dysostosis acral with facial and genital abnormalities
    * Dysostosis peripheral
    * Dysostosis Stanescu type
    * Dysphasic dementia, hereditary
    * Dysphonia, chronic spasmodic
    * Dysplasia epiphysealis hemimelica
    * Dysplastic cortical hyperostosis
    * Dysplastic nevus syndrome
    * Dysprothrombinemia
    * Dysraphism cleft lip palate limb reduction defects
    * Dyssegmental dysplasia
    * Dyssegmental dysplasia glaucoma
    * Dyssegmental dysplasia, Rolland-Desbuquois type
    * Dystelephalangy
    * Dystonia 12
    * Dystonia 15, myoclonic
    * Dystonia 6, torsion
    * Dystonia musculorum deformans 4
    * Dystonia musculorum deformans type 1
    * Dystonia musculorum deformans type 2
    * Dystonia, Dopa-responsive
    * Dystrophia myotonica 1
    * Dystrophia myotonica 2
    * Dystrophic epidermolysis bullosa
    * Dystrophinopathy

  3. #3
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    E


    * EAF
    * Eagle's syndrome
    * Eales disease
    * Ear, patella, short stature syndrome
    * Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
    * Ebola virus disease
    * Ebstein's anomaly
    * Eccentrochondrodysplasia
    * Eccrine acrospiroma
    * Eccrine spiradenoma
    * Eclampsia
    * Ecp syndrome
    * Ectodermal dysplasia
    * Ectodermal dysplasia 2, hidrotic
    * Ectodermal dysplasia adrenal cyst
    * Ectodermal dysplasia alopecia preaxial polydactyly
    * Ectodermal dysplasia anhidrotic
    * Ectodermal dysplasia arthrogryposis diabetes mellitus
    * Ectodermal dysplasia Bartalos type
    * Ectodermal dysplasia Berlin type
    * Ectodermal dysplasia blindness
    * Ectodermal dysplasia ectrodactyly macular dystrophy
    * Ectodermal dysplasia hypohidrotic autosomal dominant
    * Ectodermal dysplasia hypohidrotic hypothyroidism ciliary diskinesia
    * Ectodermal dysplasia Margarita type
    * Ectodermal dysplasia mental retardation CNS malformation
    * Ectodermal dysplasia mental retardation syndactyly
    * Ectodermal dysplasia neurosensory deafness
    * Ectodermal dysplasia osteosclerosis
    * Ectodermal dysplasia tricho odonto onychial type
    * Ectodermal dysplasia, hidrotic, Christianson-Fourie type
    * Ectodermal dysplasia, hypohidrotic, autosomal recessive
    * Ectodermal dysplasia, hypohidrotic, with immune deficiency
    * Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
    * Ectodermal dysplasia/ skin fragility syndrome
    * Ectodermal dysplasias
    * Ectodermic dysplasia anhidrotic cleft lip
    * Ectopia lentis isolated
    * Ectopia pupillae
    * Ectopic coarctation
    * Ectopic ossification familial type
    * Ectopic pregnancy
    * Ectrodactyly
    * Ectrodactyly cardiopathy dysmorphism
    * Ectrodactyly cleft palate syndrome
    * Ectrodactyly dominant form
    * Ectrodactyly ectrodermal dysplasia
    * Ectrodactyly polydactyly
    * Ectrodactyly recessive form
    * Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
    * Ectropion inferior cleft lip and or palate
    * Edinburgh malformation syndrome
    * Edwards Patton Dilly syndrome
    * Edwards syndrome
    * EEC syndrome
    * Eec syndrome without cleft lip palate
    * EEM syndrome
    * Egg shaped pupils
    * Ehlers Danlos syndrome type 4, autosomal dominant
    * Ehlers-Danlos syndrome
    * Ehlers-Danlos syndrome 6B
    * Ehlers-Danlos syndrome caused by tenascin-X deficiency
    * Ehlers-Danlos syndrome type 1
    * Ehlers-Danlos syndrome type 2
    * Ehlers-Danlos syndrome type 3
    * Ehlers-Danlos syndrome type 5
    * Ehlers-Danlos syndrome type 6
    * Ehlers-Danlos syndrome type 7A
    * Ehlers-Danlos syndrome type 7B
    * Ehlers-Danlos syndrome type 7C
    * Ehlers-Danlos syndrome, arthrochalasic type
    * Ehlers-Danlos syndrome, Beasley Cohen type
    * Ehlers-Danlos syndrome, cardiac valvular form
    * Ehlers-Danlos syndrome, classic type
    * Ehlers-Danlos syndrome, dermatosparaxis type
    * Ehlers-Danlos syndrome, hypermobile type
    * Ehlers-Danlos syndrome, progeroid form
    * Ehlers-Danlos syndrome, type 10
    * Ehrlichiosis
    * Eijkman's syndrome
    * Eisenmenger syndrome
    * Ekbom syndrome
    * Elastosis perforans serpiginosa
    * Elective mutism
    * Electron transfer flavoprotein, deficiency of
    * Elejalde syndrome
    * Elephant man in context of NF
    * Elliott Ludman Teebi syndrome
    * Ellis Yale Winter syndrome
    * Emanuel syndrome
    * Emanuel syndrome
    * Embryonal sarcoma
    * Emerinopathy
    * Emery Nelson syndrome
    * Emery-Dreifuss muscular dystrophy
    * Emery-Dreifuss muscular dystrophy, dominant type
    * Emery-Dreifuss muscular dystrophy, X-linked
    * Emphysema, congenital lobar
    * Empty sella syndrome
    * Enamel hypoplasia cataract hydrocephaly
    * Encephalitis lethargica
    * Encephalocele
    * Encephalocele anencephaly
    * Encephalocele anterior
    * Encephalocele frontal
    * Encephalocraniocutaneous lipomatosis
    * Encephalomyelitis
    * Encephalopathy intracerebral calcification retinal
    * Encephalopathy progressive optic atrophy
    * Encephalopathy, ethylmalonic
    * Encephalopathy-basal ganglia-calcification
    * Enchondromatosis (benign)
    * Enchondromatosis dwarfism deafness
    * Endocardial fibroelastosis
    * Endocarditis
    * Endocarditis, infective
    * Endocrinopathy
    * Endolymphatic sac tumors (ELST's) in Von Hippel Lindau (VHL) disease
    * Endometrial cancer
    * Endometrial stromal sarcoma
    * Endomyocardial fibroelastosis
    * Endomyocardial fibrosis
    * Eng Strom syndrome
    * Engelhard Yatziv syndrome
    * Enlarged vestibular aqueduct syndrome
    * Enolase deficiency
    * Enolase deficiency type 1
    * Enolase deficiency type 2
    * Enolase deficiency type 3
    * Enolase deficiency type 4
    * Enterobiasis
    * Enteropathica
    * Enteropathy-associated T-cell lymphoma
    * Enterovirus antenatal infection
    * Envenomization by bothrops lanceolatus
    * Envenomization by the Martinique lancehead viper
    * Environment associated hypertension
    * Eosinophilia-myalgia syndrome
    * Eosinophilic cryptitis
    * Eosinophilic cystitis
    * Eosinophilic enteropathy
    * Eosinophilic fasciitis
    * Eosinophilic granuloma
    * Eosinophilic lymphogranuloma
    * Eosinophilic pustular folliculitis
    * Eosinophilic synovitis
    * Ependymoblastoma
    * Ependymoma
    * Epidemic encephalitis
    * Epidemic encephalomyelitis
    * Epidermal nevus vitamin D resistant rickets
    * Epidermodysplasia verruciformis
    * Epidermoid carcinoma
    * Epidermolysa bullosa simplex and limb girdle muscular dystrophy
    * Epidermolysis bullosa
    * Epidermolysis bullosa acquisita
    * Epidermolysis bullosa dystrophica, Bart type
    * Epidermolysis bullosa dystrophica, dominant type
    * Epidermolysis bullosa dystrophica, Pasini type
    * Epidermolysis bullosa herpetiformis, Dowling-Meara
    * Epidermolysis bullosa intraepidermic
    * Epidermolysis bullosa inversa dystrophica
    * Epidermolysis bullosa letalis
    * Epidermolysis bullosa simplex with mottled pigmentation
    * Epidermolysis bullosa simplex, Cockayne-Touraine type
    * Epidermolysis bullosa simplex, Koebner type
    * Epidermolysis bullosa simplex, Ogna type
    * Epidermolysis bullosa with pyloric atresia
    * Epidermolysis bullosa, dermolytic
    * Epidermolysis bullosa, generalized atrophic benign
    * Epidermolysis bullosa, junctional
    * Epidermolysis bullosa, junctional, with pyloric atrophy
    * Epidermolysis bullosa, late-onset localized junctional, with mental retardation
    * Epidermolysis bullosa, lethal acantholytic
    * Epidermolysis bullosa, pretibial
    * Epilepsy benign neonatal dominant form
    * Epilepsy benign neonatal recessive form
    * Epilepsy juvenile absence
    * Epilepsy mental deterioration Finnish type
    * Epilepsy microcephaly skeletal dysplasia
    * Epilepsy occipital calcifications
    * Epilepsy progressive myoclonic type 3
    * Epilepsy telangiectasia
    * Epilepsy with myoclono-astatic crisis
    * Epilepsy, benign occipital
    * Epilepsy, myoclonic progressive familial
    * Epilepsy, nocturnal, frontal lobe type
    * Epilepsy, partial, familial
    * Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
    * Epileptic encephalopathy, Lennox-Gastaut type
    * Epimerase deficiency
    * Epimetaphyseal dysplasia cataract
    * Epimetaphyseal skeletal dysplasia
    * Epiphyseal dysplasia dysmorphism camptodactyly
    * Epiphyseal dysplasia hearing loss dysmorphism
    * Epiphyseal dysplasia, multiple, 1
    * Epiphyseal dysplasia, multiple, 2
    * Epiphyseal dysplasia, multiple, 3
    * Epiphyseal dysplasia, multiple, 4
    * Epiphyseal dysplasia, multiple, 5
    * Epiphyseal stippling syndrome osteoclastic hyperplasia
    * Episodic Ataxia syndrome
    * Episodic ataxia with nystagmus
    * Epithelial-myoepithelial carcinoma
    * Epithelioid sarcoma
    * Epitheliopathy, acute posterior multifocal placoid
    * Epstein Barr virus, chronic
    * Epstein syndrome
    * Erdheim disease
    * Erdheim-Chester syndrome
    * Ermine phenotype
    * Eronen Somer Gustafsson syndrome
    * Erosive pustular dermatosis of the scalp
    * Erysipelas
    * Erythema elevatum diutinum
    * Erythema multiforme
    * Erythema nodosum, familial
    * Erythema nodosum, idiopathic
    * Erythermalgia
    * Erythroblastopenia
    * Erythroderma desquamativa of Leiner
    * Erythroderma lethal congenital
    * Erythrokeratodermia ataxia
    * Erythrokeratodermia progressive symmetrica ichthyosis
    * Erythrokeratodermia symmetrica progressiva
    * Erythrokeratodermia variabilis ichthyosis
    * Erythrokeratodermia variabilis, Mendes da Costa type
    * Erythrokeratodermia with ataxia
    * Erythromelalgia
    * Erythroplakia
    * Erythropoietic protoporphyria
    * Escher Hirt syndrome
    * Escobar syndrome, type B
    * Esophageal atresia
    * Esophageal atresia associated anomalies
    * Esophageal atresia coloboma talipes
    * Esophageal disorder
    * Esophageal duodenal atresia abnormalities of hands
    * Esophageal neoplasm
    * Esophageal varices
    * Esotropia
    * Essential hypertension
    * Essential iris atrophy
    * Essential mixed cryoglobulinemia
    * Essential thrombocytopenia
    * Essential thrombocytosis
    * Esthesioneuroblastoma
    * Euhidrotic ectodermal dysplasia
    * Eunuchoidism, familial hypogonadotropic
    * Evan's syndrome
    * Ewing's family of tumors
    * Ewing's sarcoma
    * Exencephaly
    * Exercise induced anaphylaxis
    * Exfoliative dermatitis
    * Exogenous lipoid pneumonia
    * Exostoses
    * Exostoses anetodermia brachydactyly type E
    * Exostoses, multiple
    * Exostoses, multiple, type 1
    * Exostoses, multiple, type 2
    * Exostoses, multiple, type 3
    * Exstrophy of the bladder
    * Exstrophy of the bladder-epispadias
    * Exsudative retinopathy familial, autosomal dominant
    * Exsudative retinopathy familial, autosomal recessive
    * Exsudative retinopathy familial, X-linked, recessive
    * Exsudative retinopathy, familial
    * Extragonadal Germ Cell Tumor
    * Extrasystoles short stature hyperpigmentation microcephaly
    * Exudative vitreoretinopathy 1
    * Eye defects arachnodactyly cardiopathy
    * Eyebrows duplication of, with stretchable skin and syndactyly


    F


    * Fabry disease
    * FACES syndrome
    * Facial asymetry temporal seizures
    * Facial clefting corpus callosum agenesis
    * Facial dysmorphism macrocephaly myopia Dandy Walker type
    * Facial dysmorphism shawl scrotum joint laxity syndrome
    * Facial ectodermal dysplasia
    * Facial paresis, hereditary, congenital
    * Facies unusual arthrogryposis advanced skeletal malformations
    * Facio digito genital syndrome recessive form
    * Facio skeletal genital syndrome Rippberger type
    * Facio thoraco genital syndrome
    * Faciocardiomelic dysplasia lethal
    * Faciocardiorenal syndrome
    * Faciomandibular myoclonus, nocturnal
    * Faciooculoacousticorenal syndrome
    * Facioscapulohumeral muscular dystrophy 1a
    * Factor 2 deficiency
    * Factor 7 deficiency
    * Factor 8 deficiency, acquired
    * Factor V deficiency
    * Factor V Leiden thrombophilia
    * Factor X deficiency
    * Factor X deficiency, congenital
    * Factor XI deficiency, congenital
    * Factor XII deficiency
    * Fairbank disease
    * Fallopian tube cancer
    * Fallot complex with severe mental and growth retardation
    * Fallot tetralogy
    * Familial adenomatous polyposis
    * Familial amyloid polyneuropathy
    * Familial aortic dissection
    * Familial band heterotopia
    * Familial capillaro-venous leptomeningeal angiomatosis
    * Familial cerebral cavernous malformation
    * Familial Cold Autoinflamatory Syndrome (FCAS)
    * Familial cold autoinflammatory syndrome
    * Familial Colorectal Cancer
    * Familial cylindromatosis
    * Familial deafness
    * Familial dermographism
    * Familial dilated cardiomyopathy
    * Familial emphysema
    * Familial encephalopathy with neuroserpin inclusion bodies
    * Familial erythrocytosis, 1
    * Familial hyperchylomicronemia
    * Familial hyperlipoproteinemia
    * Familial hyperlipoproteinemia type 1
    * Familial hyperlipoproteinemia type 3
    * Familial hyperlipoproteinemia type 4
    * Familial hypersecretion of adrenal androgens
    * Familial hypersensitivity pneumonitis
    * Familial hypertension
    * Familial hypopituitarism
    * Familial hypothyroidism
    * Familial interstitial fibrosis
    * Familial intestinal polyatresia syndrome
    * Familial Mediterranean fever
    * Familial multiple trichodiscomas
    * Familial myelofibrosis
    * Familial nasal acilia
    * Familial neurocardiogenic syncope
    * Familial non-immune hyperthyroidism
    * Familial opposable triphalangeal thumbs duplication
    * Familial partial paralysis
    * Familial periodic paralysis
    * Familial polyposis
    * Familial porencephaly
    * Familial renal cell carcinoma
    * Familial streblodactyly
    * Familial symmetric lipomatosis
    * Familial Treacher Collins syndrome
    * Familial veinous malformations
    * Familial ventricular tachycardia
    * Familial visceral myopathy
    * Familial Wilms tumor 2
    * Fanconi anemia type 1
    * Fanconi anemia type 2
    * Fanconi anemia type 3
    * Fanconi Bickel syndrome
    * Fanconi ichthyosis dysmorphism
    * Fanconi like syndrome
    * Fanconi pancytopenia
    * Fanconi renotubular syndrome
    * Fanconi's anemia
    * Fara Chlupackova syndrome
    * Farber's disease
    * Farmer's lung
    * Fascioliasis
    * Fatal familial insomnia
    * Faulk Epstein Jones syndrome
    * Faye-Petersen Ward Carey syndrome
    * Fazio Londe syndrome
    * Fealty syndrome
    * Febrile Ulceronecrotic Mucha-Habermann disease
    * Fechtner syndrome
    * Feigenbaum Bergeron Richardson syndrome
    * Feigenbaum Bergeron syndrome
    * Feingold Trainer syndrome
    * Felty's Syndrome
    * Female pseudohermaphrodism
    * Female pseudohermaphrodism Genuardi type
    * Femoral facial syndrome
    * Femur bifid with monodactylous ectrodactyly
    * Femur fibula ulna syndrome
    * Fenton Wilkinson Toselano syndrome
    * Ferlini Ragno Calzolari syndrome
    * Fernhoff Blackston Oakley syndrome
    * Fertile eunuch syndrome
    * Fetal acitretin syndrome
    * Fetal akinesia syndrome X-linked
    * Fetal akinesia syndrome, X-linked
    * Fetal alcohol syndrome
    * Fetal aminopterin syndrome
    * Fetal and neonatal alloimmune thrombocytopenia
    * Fetal anticonvulsant syndrome
    * Fetal antihypertensive drugs syndrome
    * Fetal brain disruption sequence
    * Fetal cytomegalovirus syndrome
    * Fetal diethylstilbestrol syndrome
    * Fetal edema
    * Fetal enterovirus syndrome
    * Fetal hydantoin syndrome
    * Fetal indomethacin syndrome
    * Fetal iodine syndrome
    * Fetal left ventricular aneurysm
    * Fetal macrosomia
    * Fetal methimazole syndrome
    * Fetal methyl mercury syndrome
    * Fetal minoxidil syndrome
    * Fetal parainfluenza virus type 3 syndrome
    * Fetal parvovirus syndrome
    * Fetal phenothiazine syndrome
    * Fetal prostaglandin syndrome
    * Fetal thalidomide syndrome
    * Fetal warfarin syndrome
    * FG syndrome
    * FG syndrome 2
    * FG syndrome 3
    * FG syndrome 4
    * Fibrinogen deficiency, congenital
    * Fibrocartilaginous embolism
    * Fibrochondrogenesis
    * Fibrodysplasia ossificans progressiva
    * Fibrolipomatosis
    * Fibromatosis
    * Fibromatosis gingival hypertrichosis
    * Fibromatosis multiple non ossifying
    * Fibromatosis, gingival, 3
    * Fibromuscular dysplasia of arteries
    * Fibrosarcoma
    * Fibrosing alveolitis
    * Fibrous dysplasia
    * Fibrous dysplasia of bone
    * Fibula aplasia complex brachydactyly
    * Fibular aplasia
    * Fibular aplasia ectrodactyly
    * Fibular hypoplasia and complex brachydactyly
    * Fibular hypoplasia scapulo pelvic dysplasia absent
    * Filaminopathy, autosomal dominant
    * Filariasis
    * Fine-Lubinsky syndrome
    * Fingerprints absence syndactyly milia
    * Finnish lethal neonatal metabolic syndrome
    * Finnish type amyloidosis
    * Finucane Kurtz Scott syndrome
    * Fish-eye disease
    * Fissured tongue
    * Fistulous vegetative verrucous hydradenoma
    * Fitz-Hugh-Curtis syndrome
    * Fitzsimmons Walson Mellor syndrome
    * Fitzsimmons-Guilbert syndrome
    * Fitzsimmons-McLachlan-Gilbert syndrome
    * Flat umbilicus familial
    * Flaujeac factor deficiency
    * Flavimonas oryzihabitans
    * Floating-harbor syndrome
    * Florid cemento-osseous dysplasia
    * Florid cystic endosalpingiosis of the uterus
    * FLOTCH syndrome
    * Flynn Aird syndrome
    * Focal alopecia congenital megalencephaly
    * Focal cortical dysplasia of Taylor
    * Focal dermal hypoplasia
    * Focal dystonia
    * Focal facial dermal dysplasia
    * Focal or multifocal malformations in neuronal migration
    * Focal segmental glomerulosclerosis
    * Foix Chavany Marie syndrome
    * Follicle-stimulating hormone deficiency, isolated
    * Follicular dendritic cell tumor
    * Follicular hamartoma alopecia cystic fibrosis
    * Follicular ichthyosis
    * Follicular lymphoma
    * Follicular lymphoreticuloma
    * Fontaine Farriaux Blanckaert syndrome
    * Forbes Albright syndrome
    * Forestier's disease
    * Formaldehyde poisoning
    * Forney Robinson Pascoe syndrome
    * Fountain syndrome
    * Fowler Christmas Chapple syndrome
    * Fox-Fordyce disease
    * Fragile X syndrome
    * Fragile X syndrome type 1
    * Fragile X syndrome type 2
    * Fragile X syndrome type 3
    * Fragoso Cid Garcia Hernandez syndrome
    * Franceschini Vardeu Guala syndrome
    * Francois dyscephalic syndrome
    * Franek Bocker kahlen syndrome
    * Frank Ter Haar syndrome
    * Fraser Jequier Chen syndrome
    * Fraser like syndrome
    * Fraser syndrome
    * Frasier syndrome
    * FRAXD
    * FRAXE syndrome
    * Freeman-Sheldon syndrome
    * Freiberg's disease
    * Freire-Maia odontotrichomelic syndrome
    * Frenkel Russe syndrome
    * Frey's syndrome
    * Frias syndrome
    * Fried Goldberg Mundel syndrome
    * Friedel Heid Grosshans syndrome
    * Friedman Goodman syndrome
    * Friedreich ataxia
    * Friedreich ataxia congenital glaucoma
    * Frints De Smet Fabry Fryns syndrome
    * Froelich's syndrome
    * Frolich's syndrome
    * Fronto nasal malformation cloacal exstrophy
    * Fronto-facio-nasal dysplasia
    * Frontofacionasal dysplasia type Al gazali
    * Frontometaphyseal dysplasia
    * Frontonasal dysplasia
    * Frontonasal dysplasia acromelic
    * Frontonasal dysplasia klippel feil syndrome
    * Frontonasal dysplasia phocomelic upper limbs
    * Frontotemporal dementia
    * Frontotemporal dementia, ubiquitin-positive
    * Froster huch syndrome
    * Froster Iskenius Waterson syndrome
    * Fructose intolerance
    * Fructose-1,6-bisphosphatase deficiency
    * Fructose-1-phosphate aldolase deficiency, heredita
    * Fructosemia, hereditary
    * Fructosuria
    * Frydman Cohen Ashenazi syndrome
    * Frydman Cohen Karmon syndrome
    * Fryer syndrome
    * Fryns Fabry Remans syndrome
    * Fryns Hofkens Fabry syndrome
    * Fryns smeets thiry syndrome
    * Fryns syndrome
    * Fuchs atrophia gyrata chorioideae et retinae
    * Fucosidosis
    * Fucosidosis type 1
    * Fuhrmann syndrome
    * Fukuda Miyanomae Nakata syndrome
    * Fukuyama type muscular dystrophy
    * Fumaric aciduria
    * Functioning pancreatic endocrine tumor
    * Fuqua Berkovitz syndrome
    * Furlong syndrome
    * Furukawa Takagi Nakao syndrome
    * Furunculous myiasis
    * Fused mandibular incisors



    G


    * Galactocele
    * Galactokinase deficiency
    * Galactorrhoea-Hyperprolactinaemia
    * Galactosamine-6-sulfatase deficiency
    * Galactose epimerase deficiency
    * Galactosemia
    * Gall bladder cancer
    * Game Friedman Paradice syndrome
    * Gamma aminobutyric acid transaminase deficiency
    * Gamma-cystathionase deficiency
    * Gamstorp episodic adynamy
    * Ganglioglioma
    * Gangliosidosis generalized GM1, type 1
    * Gangliosidosis GM1 type 3
    * Gangliosidosis, generalized GM1 type 2
    * GAPO syndrome
    * Gardner Morrisson Abbot syndrome
    * Gardner-Diamond syndrome
    * Gardner's syndrome
    * Garret Tripp syndrome
    * Gas bloat syndrome
    * Gastric lymphoma
    * Gastritis, familial giant hypertrophic
    * Gastrocutaneous syndrome
    * Gastro-enteropancreatic neuroendocrine tumor
    * Gastrointestinal Stromal Tumors
    * Gastroschisis
    * Gaucher Disease
    * Gaucher disease type 1
    * Gaucher disease type 2
    * Gaucher disease type 3
    * Gaucher ichthyosis restrictive dermopathy
    * Gaucher-like disease
    * Gay Feinmesser Cohen syndrome
    * Gelatinous ascites
    * Geleophysic dwarfism
    * Gelineau's syndrome
    * Gemignani syndrome
    * GEMSS syndrome
    * Genee-Wiedemann syndrome
    * Generalized resistance to thyroid hormone
    * Generalized torsion dystonia
    * Genetic reflex epilepsy
    * Geniospasm
    * Genital dwarfism
    * Genital dwarfism, Turner type
    * Genito palato cardiac syndrome
    * Genoa syndrome
    * Genu valgum, st Helena familial
    * Genu varum
    * Geographic tongue
    * German syndrome
    * Germinal cell aplasia
    * Gerodermia osteodysplastica
    * Gershinibaruch Leibo syndrome
    * Gertsmann syndrome
    * Gestational pemphigoid
    * Gestational trophoblastic disease
    * Gestational Trophoblastic Neoplasms
    * Ghosal syndrome
    * Ghose Sachdev Kumar syndrome
    * Gianotti-Crosti syndrome
    * Giant axonal neuropathy
    * Giant cell myocarditis
    * Giant congenital nevi
    * Giant ganglionic hyperplasia
    * Giant hypertrophic gastritis
    * Giant mammary hamartoma
    * Giant papillary conjunctivitis
    * Giant pigmented hairy nevus
    * Giant platelet syndrome
    * Giedion syndrome
    * Gigantism
    * Gigantism advanced bone age hoarse cry
    * Gigantomastia
    * Gilbert's syndrome
    * Gingival fibromatosis dominant
    * Gingival fibromatosis facial dysmorphism
    * Gingival fibrosis
    * Gitelman syndrome
    * Glanders
    * Glass Chapman Hockley syndrome
    * Glassy cell carcinoma of the cervix
    * Glaucoma 3, primary infantile, B
    * Glaucoma iridogoniodysgenesia
    * Glaucoma sleep apnea
    * Glaucoma type 1C
    * Glaucoma, congenital
    * Glaucoma, hereditary
    * Glaucoma, hereditary adult type 1A
    * Glaucoma, hereditary juvenile type 1B
    * Glaucoma, primary infantile type 3A
    * Glioblastoma
    * Glioblastoma multiforme
    * Glioma
    * Gliomatosis cerebri
    * Gliosarcoma
    * Global disaccharide intolerance
    * Glomerulonephritis
    * Glomerulonephritis sparse hair telangiectases
    * Glomerulopathy with fibronectin deposits
    * Glomus tympanicum
    * Glomus vagale tumors
    * Gloomy face syndrome
    * Glossodynia
    * Glossopalatine ankylosis micrognathia ear anomalies
    * Glossopharyngeal neuralgia
    * Glucagonoma
    * Glucagonoma syndrome
    * Glucocorticoid deficiency, familial
    * Glucocorticoid resistance
    * Glucocorticoid sensitive hypertension
    * Glucose 6 phosphate dehydrogenase deficiency
    * Glucose transport defect, blood-brain barrier
    * Glucose-6-phosphate translocase deficiency
    * Glucose-galactose malabsorption
    * Glucosephosphate isomerase deficiency
    * Glucosidase acid-1,4-alpha deficiency
    * Glut2 deficiency
    * Glutamate decarboxylase deficiency
    * Glutamate-aspartate transport defect
    * Glutamine deficiency, congenital
    * Glutamine deficiency, congenital
    * Glutaric aciduria 1
    * Glutaric aciduria 2
    * Glutathione synthetase deficiency
    * Glutathionuria
    * Glyceraldehyde-3-phosphate dehydrogenase deficiency
    * Glycine encephalopathy
    * Glycine synthase deficiency
    * Glycogen storage disease type 1B
    * Glycogen storage disease type 1C
    * Glycogen storage disease type 1D
    * Glycogen storage disease type 2
    * Glycogen storage disease type 2B
    * Glycogen storage disease type 3
    * Glycogen storage disease type 4
    * Glycogen storage disease type 5
    * Glycogen storage disease type 6
    * Glycogen storage disease type 6, due to phosphorylation
    * Glycogen storage disease type 7
    * Glycogenosis type 2
    * Glycogenosis type 3
    * Glycogenosis type 4
    * Glycogenosis type 5
    * Glycogenosis type 6
    * Glycogenosis type 7
    * Glycogenosis type 8
    * Glycogenosis, type 0
    * Glycosylphosphatidylinositol deficiency
    * GM2 gangliosidosis, 0 variant
    * GM2-gangliosidosis, B, B1, AB variant
    * Gms syndrome
    * Gnathostoma Infection
    * Goldberg-Shprintzen megacolon syndrome
    * Goldblatt Wallis syndrome
    * Goldblatt Viljoen syndrome
    * Goldenhar disease
    * Goldstein Hutt syndrome
    * Gollop Coates syndrome
    * Gollop syndrome
    * GOMBO syndrome
    * Gomez Lopez Hernandez syndrome
    * Gonadal dysgenesis
    * Gonadal dysgenesis mixed
    * Gonadal dysgenesis Turner type
    * Gonadal dysgenesis XY type associated anomalies
    * Gonadal dysgenesis, XX type
    * Gonadal dysgenesis, XY female type
    * Goniodysgenesis mental retardation short stature
    * Gonococcal conjunctivitis
    * Gonzales Del Angel syndrome
    * Good syndrome
    * Goodman camptodactyly
    * Goodpasture syndrome
    * Gordon hyperkaliemia-hypertension syndrome
    * Gordon syndrome
    * Gorham syndrome
    * Gorlin Bushkell Jensen syndrome
    * Gorlin Chaudhry Moss syndrome
    * Gouty nephropathy, familial
    * Gracile bone dysplasia
    * Graft versus host disease
    * Graham Boyle Troxell syndrome
    * Grand Kaine Fulling syndrome
    * Grant syndrome
    * Granulocytopenia
    * Granuloma annulare
    * Granulomas, congenital cerebral
    * Granulomatous Angiitis of the Central Nervous System
    * Granulomatous hypophysitis
    * Granulomatous rosacea
    * Granulosa cell tumor of the ovary
    * Graphite Pneumoconiosis
    * Graves' disease
    * Gray platelet syndrome
    * Great vessels transposition
    * Green Sandford Davison syndrome
    * Greenberg dysplasia
    * Greig cephalopolysyndactyly syndrome
    * Griscelli syndrome type 1
    * Griscelli syndrome type 2
    * Griscelli syndrome type 3
    * Grix Blankenship Peterson syndrome
    * Groenouw type I corneal dystrophy
    * Groll Hirschowitz syndrome
    * Grosse syndrome
    * Group B strep disease in newborns
    * Grover's disease
    * Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
    * Growth deficiency brachydactyly unusual facies
    * Growth hormone deficiency
    * Growth mental deficiency syndrome of Myhre
    * Growth retardation alopecia pseudoanodontia optic
    * Growth retardation hydrocephaly lung hypoplasia
    * Growth retardation mental retardation phalangeal hypoplasia
    * Grubben de Cock Borghgraef syndrome
    * GTP cyclohydrolase deficiency
    * Guanidinoacetate methyltransferase deficiency
    * Guérin-Stern syndrome
    * Guillain-Barre syndrome
    * Guizar Vasquez Sanchez Manzano syndrome
    * Gupta Patton syndrome
    * Gurrieri Sammito Bellussi syndrome
    * Gusher syndrome
    * Gynandroblastoma

  4. #4
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    H


    * Haemophilus influenzae
    * Hagemoser Weinstein Bresnick syndrome
    * Hailey Hailey disease
    * Haim-Munk syndrome
    * Hair defect with photosensitivity and mental retardation
    * HAIR-AN syndrome
    * Hairy cell leukemia
    * Hairy elbows
    * Hairy nose tip
    * Hairy palms and soles
    * Hairy tongue
    * Hajdu-Cheney syndrome
    * Halal Setton Wang syndrome
    * Halal syndrome
    * Hall Riggs mental retardation syndrome
    * Hallervorden-Spatz disease
    * Halo nevi
    * Hamanishi Ueba Tsuji syndrome
    * Hamano Tsukamoto syndrome
    * Hamman-Rich syndrome
    * Hand and foot deformity with flat facies
    * Hand foot uterus syndrome
    * Hand-Schuller-Christian disease
    * Hanhart syndrome
    * Hantavirosis
    * Hantavirus pulmonary syndrome
    * Hard skin syndrome Parana type
    * HARD syndrome
    * Hardikar syndrome
    * Harding ataxia
    * Harlequin ichthyosis
    * Harlequin syndrome
    * Harrod Doman Keele syndrome
    * Hartnup disease
    * Hashimoto-Pritzker syndrome
    * Hashimoto's encephalitis
    * Hashimoto's syndrome
    * Haspeslagh Fryns Muelenaere syndrome
    * Hawkinsinuria
    * Hay Wells syndrome recessive type
    * Hay-Wells syndrome
    * Heart block progressive, familial
    * Heart defect, tongue hamartoma and polysyndactyly
    * Heart defects limb shortening
    * Heart tumor
    * Heart-hand syndrome, Slovenian type
    * Heart-hand syndrome,Spanish type
    * Heavy metal poisoning
    * HEC syndrome
    * Hecht Scott syndrome
    * Hecht syndrome
    * HELLP syndrome
    * Helminthiasis
    * HEM dysplasia
    * Hemangioblastoma
    * Hemangioendothelioma
    * Hemangioma thrombocytopenia syndrome
    * Hemangioma, capillary infantile
    * Hemangiomatosis, familial pulmonary capillary
    * Hemangiopericytoma
    * Hemeralopia, congenital essential
    * Hemeralopia, familial
    * Hemi 3 syndrome
    * Hemifacial atrophy agenesis of the caudate nucleus
    * Hemifacial hyperplasia strabismus
    * Hemifacial myohyperplasia
    * Hemihypertrophy in context of NF
    * Hemihypertrophy intestinal web corneal opacity
    * Hemimegalencephaly
    * Hemiplegia
    * Hemiplegic migraine, familial type 1
    * Hemiplegic migraine, familial type 2
    * Hemochromatosis, type 2
    * Hemochromatosis, type 3
    * Hemochromatosis, type 4
    * Hemoglobin C disease
    * Hemoglobin E disease
    * Hemoglobin SC disease
    * Hemoglobin Zurich
    * Hemoglobinemia
    * Hemoglobinopathy
    * Hemoglobinuria
    * Hemolytic anemia lethal genital anomalies
    * Hemolytic uremic syndrome, atypical, childhood
    * Hemolytic-uremic syndrome
    * Hemophagocytic lymphohistiocytosis
    * Hemophagocytic lymphohistiocytosis, familial, 2
    * Hemophagocytic lymphohistiocytosis, familial, 3
    * Hemophagocytic lymphohistiocytosis, familial, 4
    * Hemophagocytic reticulosis
    * Hemophilia A, congenital
    * Hemophilia B
    * Hemophilic arthropathy
    * Hemorrhagic fever
    * Hemorrhagic proctocolitis
    * Hemorrhagic shock and encephalopathy syndrome
    * Hemorrhagic thrombocythemia
    * Hemorrhagiparous thrombocytic dystrophy
    * Hemosiderosis
    * Hennekam Beemer syndrome
    * Hennekam Koss de Geest syndrome
    * Hennekam lymphangiectasia lymphedema syndrome
    * Hennekam syndrome
    * Hennekam Van der Horst syndrome
    * Henoch-Schonlein purpura
    * Hepadnovirus D
    * Heparane sulfamidase deficiency
    * Heparin induced thrombocytopenia
    * Hepatic cystic hamartoma
    * Hepatic fibrosis
    * Hepatic fibrosis renal cysts mental retardation
    * Hepatic venoocclusive disease
    * Hepatic venoocclusive disease with immunodeficiency
    * Hepatitis E
    * Hepatitis X (non-A,-B,-C,-D,-E)
    * Hepatoblastoma
    * Hepatocellular carcinoma
    * Hepatocellular carcinoma (fibrolamellar variant)
    * Hepatoerythropoietic porphyria
    * Hepatorenal syndrome
    * Hereditary amyloidosis
    * Hereditary angioedema
    * Hereditary ataxia
    * Hereditary carnitine deficiency
    * Hereditary cerebellar ataxia syndrome of early onset
    * Hereditary deafness
    * Hereditary elliptocytosis
    * Hereditary fructose intolerance
    * Hereditary hearing disorder
    * Hereditary hearing loss
    * Hereditary hemorrhagic telangiectasia
    * Hereditary hyperuricemia
    * Hereditary koilonychia
    * Hereditary macrothrombocytopenia
    * Hereditary methemoglobinemia, recessive
    * Hereditary myopathy with intranuclear filamentous
    * Hereditary nodular heterotopia
    * Hereditary nonpolyposis colon cancer
    * Hereditary non-spherocytic hemolytic anemia
    * Hereditary pancreatitis
    * Hereditary paroxysmal cerebral ataxia
    * Hereditary peripheral nervous disorder
    * Hereditary primary Fanconi disease
    * Hereditary resistance to anti-vitamin K
    * Hereditary sensory and autonomic neuropathy 3
    * Hereditary sensory and autonomic neuropathy type 2
    * Hereditary sensory neuropathy type 2
    * Hereditary spastic paralysis, infantile onset ascending
    * Hereditary spastic paraplegia
    * Hereditary spherocytic hemolytic anemia
    * Hereditary spherocytosis
    * Hereditary type 1 neuropathy
    * Hereditary type 2 neuropathy
    * Hermansky Pudlak syndrome 2
    * Hermansky-Pudlak syndrome
    * Hermaphroditism
    * Hernandez Aguirre-Negrete syndrome
    * Herpes simiae (B virus)
    * Herpes simplex encephalitis
    * Herpes virus antenatal infection
    * Herpes zoster ophthalmicus
    * Herpesvirus simiae B virus
    * Herpetic embryopathy
    * Herpetic keratitis
    * Herrmann Opitz arthrogryposis syndrome
    * Herrmann Opitz craniosynostosis
    * Herrmann syndrome
    * Hersh Podruch Weisskopk syndrome
    * Heterochromia iridis
    * Heterotaxia autosomal dominant type
    * Heterotaxy with polysplenia or asplenia
    * Heterotaxy, visceral, X-linked
    * HHV-6 encephalitis
    * Hiccups, intractable
    * Hidradenitis suppurativa, familial
    * High-molecular-weight kininogen deficiency, congenital
    * Hillig syndrome
    * Hing Torack Dowston syndrome
    * Hinson-Pepys disease
    * Hip dislocation
    * Hip Dysplasia
    * Hip dysplasia Beukes type
    * Hip luxation
    * Hip subluxation
    * Hipo syndrome
    * Hirschsprung disease ganglioneuroblastoma
    * Hirschsprung disease polydactyly heart disease
    * Hirschsprung disease type 2
    * Hirschsprung disease type 3
    * Hirschsprung disease type d brachydactyly
    * Hirschsprung microcephaly cleft palate
    * Hirschsprung nail hypoplasia dysmorphism
    * Hirschsprung's disease
    * Hirsutism congenital gingival hyperplasia
    * Hirsutism skeletal dysplasia mental retardation
    * His bundle tachycardia
    * Histidinemia
    * Histidinuria renal tubular defect
    * Histiocytosis with joint contractures and sensorineural deafness
    * Histiocytosis X
    * Histiocytosis, Non-Langerhans-Cell
    * Hittner Hirsch Kreh syndrome
    * Hm syndrome
    * HMG CoA lyase deficiency
    * HMG CoA synthetase deficiency
    * Ho Kaufman Mcalister syndrome
    * Hodgkin disease, X-linked pseudoautosomal
    * Hodgkin lymphoma, adult
    * Hodgkin lymphoma, childhood
    * Hodgkin lymphoma, during pregnancy
    * Hodgkin's disease
    * Hollow visceral myopathy
    * Holmes Borden syndrome
    * Holmes Collins syndrome
    * Holoacardius amorphus
    * Holocarboxylase synthetase deficiency
    * Holoprosencephaly
    * Holoprosencephaly caudal dysgenesis
    * Holoprosencephaly deletion 2p
    * Holoprosencephaly ectrodactyly cleft lip palate
    * Holoprosencephaly radial heart renal anomalies
    * Holoprosencephaly, recurrent infections, and monocytosis
    * Holt-Oram syndrome
    * Holzgreve Wagner Rehder syndrome
    * Homocarnosinosis
    * Homocystinuria
    * Homocystinuria due to defect in methylation (cbl g)
    * Homocystinuria due to defect in methylation cbl e
    * Homocystinuria due to defect in methylation, MTHFR deficiency
    * Homologous wasting disease
    * Homozygous hypobetalipoproteinemia
    * Hooft disease
    * Hoon Hall syndrome
    * Hordnes Engebretsen Knudtson syndrome
    * Horn Kolb syndrome
    * Horner's syndrome
    * Hornova Dlurosova syndrome
    * Horseshoe kidney
    * Horton’s disease
    * Houlston Ironton Temple syndrome
    * Howard Young syndrome
    * Hoyeraal Hreidarsson syndrome
    * Hoyeraal syndrome
    * Human granulocytic ehrlichiosis
    * Human monocytic ehrlichiosis
    * Human parvovirus B19 infection
    * Human spumaretrovirus infection
    * Human T Cell Leukemia Virus 1
    * Human T-cell leukemia viruses type 2
    * Human T-lymphotropic virus type 3
    * Humeroradial synostosis
    * Humeroradioulnar synostosis
    * Humerus trochlea aplasia of
    * Hunter Carpenter Macdonald syndrome
    * Hunter Jurenka Thompson syndrome
    * Hunter Macpherson syndrome
    * Hunter Mcdonald syndrome
    * Hunter Rudd Hoffmann syndrome
    * Hunter syndrome
    * Hunter-McAlpine syndrome
    * Huntington disease
    * Hurler syndrome
    * Hurst Hallam Hockey syndrome
    * Hutchinson Gilford progeria syndrome
    * Hutchinson incisors
    * Hutterite cerebroosteonephrodysplasia syndrome
    * Hutteroth Spranger syndrome
    * Hyalinosis systemic short stature
    * Hyaloideoretinal degeneration of Wagner
    * Hydatidosis
    * Hyde Forster Mccarthy Berry syndrome
    * Hydranencephaly
    * Hydroa vacciniforme
    * Hydroa vacciniforme, familial
    * Hydrocephalus
    * Hydrocephalus autosomal recessive
    * Hydrocephalus costovertebral dysplasia Sprengel anomaly
    * Hydrocephalus craniosynostosis bifid nose
    * Hydrocephalus due to congenital stenosis of aqueduct of sylvius
    * Hydrocephalus endocardial fibroelastosis cataract
    * Hydrocephalus growth retardation skeletal anomalies
    * Hydrocephalus obesity hypogonadism
    * Hydrocephalus skeletal anomalies
    * Hydrocephaly corpus callosum agenesis diaphragmatic hernia
    * Hydrocephaly low insertion umbilicus
    * Hydrocephaly tall stature joint laxity
    * Hydrolethalus syndrome
    * Hydronephrosis congenital
    * Hydronephrosis peculiar facial expression
    * Hydrops ectrodactyly syndactyly
    * Hydrops fetalis
    * Hydrops fetalis anemia immune disorder absent thumb
    * Hydroxyacyl-coa dehydrogenase, type 2, deficiency
    * Hydroxycarboxylic aciduria
    * Hydroxykynureninuria
    * Hygroma cervical
    * Hymenolepiasis
    * Hyper IgE
    * Hyper IgM syndrome
    * Hyperacusis
    * Hyperadrenalism
    * Hyperaldosteronism
    * Hyperaldosteronism familial type 2
    * Hyperaldosteronism, familial type 1
    * Hyperammonemia
    * Hyperandrogenism
    * Hyperbilirubinemia transient familial neonatal
    * Hyperbilirubinemia type 1
    * Hyperbilirubinemia type 2
    * Hypercalcinuria macular coloboma
    * Hypercalciuria, childhood idiopathic
    * Hypercementosis
    * Hypercholesterolemia, autosomal dominant
    * Hypercholesterolemia, autosomal dominant, type B
    * Hyperchylomicronemia
    * Hypereosinophilic syndrome
    * Hyperexplexia hereditary
    * Hyperferritinemia, hereditary, with congenital cataracts
    * Hyperglycerolemia
    * Hyperglycinemia, isolated nonketotic
    * Hyperglycinemia, isolated nonketotic type 1
    * Hyperglycinemia, isolated nonketotic type 2
    * Hypergonadotropic ovarian failure, familial or sporadic
    * Hyperhomocysteinemia
    * Hyper-IgD syndrome
    * Hyperimidodipeptiduria
    * Hyperimmunoglobinemia D with recurrent fever
    * Hyperimmunoglobulin E - reccurrent infection syndrome
    * Hyperimmunoglobulinemia D with periodic fever
    * Hyperimmunoglobulinemia E
    * Hyperinsulinemic hypoglycemia, familial, 1
    * Hyperinsulinemic hypoglycemia, familial, 2
    * Hyperinsulinemic hypoglycemia, familial, 3
    * Hyperinsulinemic hypoglycemia, familial, 6
    * Hyperinsulinemic hypoglycemia, familial, 7
    * Hyperinsulinism due to focal adenomatous hyperplasia
    * Hyperinsulinism due to glucokinase deficiency
    * Hyperinsulinism due to glutamodehydrogenase deficiency
    * Hyperinsulinism in children, congenital
    * Hyperinsulinism, diffuse
    * Hyperinsulinism, focal
    * Hyperkalemic periodic paralysis
    * Hyperkeratosis lenticularis perstans
    * Hyperkeratosis palmoplantar localized acanthokeratolytic
    * Hyperkeratosis palmoplantar localized epidermolytic
    * Hyperkeratosis palmoplantar with palmar crease hyperkeratosis
    * Hyperlipoproteinemia type 1
    * Hyperlipoproteinemia type 2
    * Hyperlipoproteinemia type 3
    * Hyperlipoproteinemia type 5
    * Hyperlysinemia
    * Hyperornithinemia
    * Hyperornithinemia-hyperammonemia-homocitrullinuria
    * Hyperostosis cortical infantile
    * Hyperostosis corticalis generalisata
    * Hyperostosis-hyperphosphatemia syndrome
    * Hyperoxaluria
    * Hyperparathyroidism, familial, primary
    * Hyperparathyroidism, neonatal severe primary
    * Hyperparathyroidism, primary
    * Hyperphalangism dysmorphy bronchomalacia
    * Hyperphenilalaninemia due to pterin-4-alpha-carbin
    * Hyperphenylalalinemia due to dihydropteridine reductase deficiency
    * Hyperphenylalaninemia due to dehydratase deficiency
    * Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
    * Hyperphenylalaninemia with primapterinuria
    * Hyperphenylalaninemic embryopathy
    * Hyperpipecolatemia
    * Hyperprolactinemia
    * Hyperprolinemia
    * Hyperprolinemia type 2
    * Hyper-reninism
    * Hypersomnolence, idiopathic
    * Hypertelorism and tetralogy of Fallot
    * Hypertelorism with esophageal abnormality and hypospadias
    * Hypertensive hypokalemia familial
    * Hyperthermia induced defects
    * Hyperthyroidism due to mutations in TSH receptor
    * Hypertrichosis atrophic skin ectropion macrostomia
    * Hypertrichosis brachydactyly obesity and mental retardation
    * Hypertrichosis congenital generalized X-linked
    * Hypertrichosis lanuginosa congenita
    * Hypertrichosis lanuginosa, acquired
    * Hypertrichosis retinopathy dysmorphism
    * Hypertrichosis, anterior cervical
    * Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
    * Hypertrophic branchial myopathy
    * Hypertrophic hemangiectasia
    * Hypertrophic neuropathy of Dejerine-Sottas
    * Hypertrophic osteoarthropathy, primary or idiopathic
    * Hypertryptophanemia
    * Hypoadrenalism
    * Hypoadrenocorticism hypoparathyroidism moniliasis
    * Hypoaldosteronism
    * Hypoalphalipoproteinemia, primary
    * Hypobetalipoproteinaemia ataxia hearing loss
    * Hypobetalipoprotéinemia, familial
    * Hypocalcemia, autosomal dominant
    * Hypocalciuric hypercalcemia, familial, type 1
    * Hypocalciuric hypercalcemia, familial, type 2
    * Hypocalciuric hypercalcemia, familial, type 3
    * Hypochondrogenesis
    * Hypochondroplasia
    * Hypocomplementemic urticarial vasculitis
    * Hypodermyasis
    * Hypodontia dysplasia of nails
    * Hypodontia of incisors and premolars
    * Hypodontia, X-linked
    * Hypofibrinogenemia, familial
    * Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked
    * Hypoglycemia with deficiency of glycogen synthetase in the liver
    * Hypoglycemia, leucine-induced
    * Hypogonadism cardiomyopathy
    * Hypogonadism hypogonadotropic due to mutations in GR hormone
    * Hypogonadism male mental retardation skeletal anomaly
    * Hypogonadism mitral valve prolapse mental retardation
    * Hypogonadism primary partial alopecia
    * Hypogonadism retinitis pigmentosa
    * Hypogonadism, isolated, hypogonadotropic
    * Hypogonadotropic hypogonadism syndactyly
    * Hypogonadotropic hypogonadism without anosmia, X-linked
    * Hypogonadotropic hypogonadism-anosmia
    * Hypogonadotropic hypogonadism-anosmia, X-linked
    * Hypohidrotic Ectodermal Dysplasia
    * Hypokalemia
    * Hypokalemic alkalosis with hypercalcinuria
    * Hypokalemic periodic paralysis
    * Hypoketonemic hypoglycemia
    * Hypolipoproteinemia
    * Hypomagnesemia 2, renal
    * Hypomagnesemia primary
    * Hypomandibular faciocranial dysostosis
    * Hypomelanotic disorder
    * Hypomelia mullerian duct anomalies
    * Hypoparathyroidism
    * Hypoparathyroidism familial isolated
    * Hypoparathyroidism short stature mental retardation
    * Hypoparathyroidism X-linked
    * Hypoparathyroidism-retardation-dysmorphism syndrome
    * Hypopharyngeal cancer
    * Hypophosphatasia
    * Hypophosphatemic rickets
    * Hypopigmentation oculocerebral syndrome Cross type
    * Hypopituitarism
    * Hypopituitarism micropenis cleft lip palate
    * Hypopituitarism postaxial polydactyly
    * Hypopituitary dwarfism
    * Hypoplasia hepatic ductular
    * Hypoplasia of the tibia with polydactyly
    * Hypoplastic left heart syndrome
    * Hypoplastic right heart microcephaly
    * Hypoplastic thumb mullerian aplasia
    * Hypoplastic thumbs hydranencephaly
    * Hypoproconvertinemia
    * Hypoprothrombinemia
    * Hyporeninemic hypoaldosteronism
    * Hyposmia nasal hypoplasia hypogonadism
    * Hypospadias familial
    * Hypospadias mental retardation Goldblatt type
    * Hypotelorism cleft palate hypospadias
    * Hypothalamic dysfunction
    * Hypothalamic hamartomas
    * Hypothyroidism due to iodide transport defect
    * Hypothyroidism postaxial polydactyly mental retardation
    * Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
    * Hypotonic sclerotic muscular dystrophy
    * Hypotrichosis
    * Hypotrichosis mental retardation Lopes type
    * Hypotrichosis simplex
    * Hypoxanthine guanine phosphoribosyltransferase deficiency



    I


    * I cell disease
    * IBIDS syndrome
    * ICF syndrome
    * Ichthyosiform erythroderma, corneal involvement, deafness
    * Ichthyosiform erythroderma, nonbullous congenital
    * Ichthyosis alopecia eclabion ectropion mental retardation
    * Ichthyosis and male hypogonadism
    * Ichthyosis bullosa of Siemens
    * Ichthyosis cheek eyebrow syndrome
    * Ichthyosis congenita biliary atresia
    * Ichthyosis deafness mental retardation skeletal anomaly
    * Ichthyosis follicularis atrichia photophobia syndrome
    * Ichthyosis hepatosplenomegaly cerebellar degeneration
    * Ichthyosis hystrix gravior
    * Ichthyosis hystrix, Curth Macklin type
    * Ichthyosis linearis circumflexa
    * Ichthyosis male hypogonadism
    * Ichthyosis mental retardation Devriendt type
    * Ichthyosis mental retardation dwarfism renal impairment
    * Ichthyosis microphthalmos
    * Ichthyosis prematurity syndrome
    * Ichthyosis tapered fingers midline groove up
    * Ichthyosis vulgaris
    * Ichthyosis with hypotrichosis, autosomal recessive
    * Ichthyosis, erythrokeratolysis hemalis
    * Ichthyosis, keratosis follicularis spinulosa decalvans
    * Ichthyosis, mental retardation, dwarfism, and renal impairment
    * Idiopathic acute eosinophilic pneumonia
    * Idiopathic adolescent scoliosis
    * Idiopathic adult neutropenia
    * Idiopathic alveolar hypoventilation syndrome
    * Idiopathic atypical mycobacterial infection
    * Idiopathic basal ganglia calcification 1
    * Idiopathic basal ganglia calcification, childhood onset
    * Idiopathic diffuse interstitial fibrosis
    * Idiopathic dilatation of the pulmonary artery
    * Idiopathic dilation cardiomyopathy
    * Idiopathic double athetosis
    * Idiopathic edema
    * Idiopathic eosinophilic chronic pneumopathy
    * Idiopathic facial palsy
    * Idiopathic hypereosinophilic syndrome
    * Idiopathic hypertrophic subaortic stenosis (IHSS)
    * Idiopathic minimal change nephrotic syndrome
    * Idiopathic myopathy
    * Idiopathic pulmonary hemosiderosis
    * Idiopathic pulmonary hypertension
    * Idiopathic sclerosing mesenteritis
    * Idiopathic subglottic tracheal stenosis
    * Iida Kannari syndrome
    * Illum syndrome
    * Ilyina Amoashy Grygory syndrome
    * Imaizumi Kuroki syndrome
    * Iminoglycinuria
    * Immotile cilia syndrome, due to defective radial spokes
    * Immotile cilia syndrome, due to excessively long cilia
    * Immotile cilia syndrome, Kartagener type
    * Immune defect due to absence of thymus
    * Immune deficiency, familial variable
    * Immune thrombocytopenia
    * Immunodeficiency with short limb dwarfism
    * Immunodeficiency without anhidrotic ectodermal dysplasia
    * Immunodeficiency, microcephaly with normal intelligence
    * Immunoglobulin a deficiency 1
    * Immunoglobulin a deficiency 2
    * Impairment of oral perception
    * Imperforate anus
    * Imperforate oropharynx costo vetebral anomalies
    * Impossible syndrome
    * Inborn amino acid metabolism disorder
    * Inborn branched chain aminoaciduria
    * Inborn renal aminoaciduria
    * Inborn urea cycle disorder
    * Incisors fused
    * Inclusion body myopathy, 2 autosomal recessive
    * Inclusion body myopathy, autosomal dominant
    * Inclusion conjunctivitis
    * Incontinentia pigmenti
    * Indomethacin antenatal infection
    * Infant epilepsy with migrant focal crisis
    * Infantile apnea
    * Infantile axonal neuropathy
    * Infantile convulsions and paroxysmal choreoathetosis, familial
    * Infantile digital fibromatosis
    * Infantile dysphagia
    * Infantile multisystem inflammatory disease
    * Infantile myofibromatosis
    * Infantile onset spinocerebellar ataxia
    * Infantile polymyoclonus
    * Infantile recurrent chronic multifocal osteomyolitis
    * Infantile sialic acid storage disorder
    * Infantile spasms
    * Infantile spasms broad thumbs
    * Infantile striato thalamic degeneration
    * Infection with Mycobacterium marinum
    * Infectious arthritis
    * Infectious myocarditis
    * Infective endocarditis
    * Infective myositis
    * Inflammatory breast cancer
    * Infundibulopelvic dysgenesis
    * Insensitivity to pain, congenital, with anhidrosis
    * Insulinoma
    * Insulin-resistance type B
    * Insulin-resistant acanthosis nigricans, type A
    * Intercellular cholesterol esterification disease
    * Interferon gamma, receptor 1, deficiency
    * Internal carotid agenesis
    * Intervertebral disc disease
    * Intestinal atresia multiple
    * Intestinal malrotation facial anomalies familial type
    * Intestinal pseudo-obstruction
    * Intestinal pseudoobstruction chronic idiopathic
    * Intracranial aneurysms multiple congenital anomaly
    * Intracranial arachnoid cysts
    * Intracranial arteriovenous malformation
    * Intrahepatic cholangiocarcinoma
    * Intraocular melanoma
    * Intrathoracic kidney vertebral fusion
    * Intrauterine growth retardation mandibular malar hypoplasia
    * Intrauterine infections
    * Intrinsic factor, congenital deficiency of
    * Iodine antenatal infection
    * Iridocyclitis
    * Iridogoniodysgenesis and skeletal anomalies
    * Iridogoniodysgenesis type1
    * Iridogoniodysgenesis, dominant type
    * Iris dysplasia hypertelorism deafness
    * Iris hypoplasia and glaucoma
    * Irons Bhan syndrome
    * Isaacs syndrome
    * Ischiadic hypoplasia renal dysfunction immunodeficiency
    * Ischiopatellar dysplasia
    * Isobutyryl-CoA dehydrogenase deficiency
    * Isosporosiasis
    * Isotretinoin embryopathy like syndrome
    * Isthmian coarctation
    * Ivemark syndrome
    * IVIC syndrome



    J


    * Jackson-Weiss syndrome
    * Jacobs syndrome
    * Jacobsen syndrome
    * Jadassohn Lewandowsky syndrome
    * Jaffer Beighton syndrome
    * Jamaican vomiting sickness
    * Jankovic Rivera syndrome
    * Jansen type metaphyseal chondrodysplasia
    * Japanese encephalitis
    * Jarcho-Levin syndrome
    * Jejunal atresia
    * Jejunal atresia with renal adysplasia
    * Jensen syndrome
    * Jequier Kozlowski skeletal dysplasia
    * Jervell Lange-Nielsen syndrome
    * Jeune syndrome
    * Jeune syndrome situs inversus
    * Job syndrome
    * Johanson Blizzard syndrome
    * Johnson Hall Krous syndrome
    * Johnson Munson syndrome
    * Johnson neuroectodermal syndrome
    * Johnston Aarons Schelley syndrome
    * Joint laxity, familial
    * Jones Hersh Yusk syndrome
    * Jones syndrome
    * Jorgenson Lenz syndrome
    * Joubert syndrome 1
    * Joubert syndrome 2
    * Joubert syndrome 3
    * Joubert syndrome 4
    * Joubert syndrome 5
    * Joubert syndrome 6
    * Juberg Hayward syndrome
    * Juberg Marsidi syndrome
    * Judge Misch Wright syndrome
    * Jumping Frenchmen of Maine
    * Jung Wolff Back Stahl syndrome
    * Juvenile dermatomyositis
    * Juvenile gout
    * Juvenile hyaline fibromatosis
    * Juvenile macular degeneration and hypotrichosis
    * Juvenile myelomonocytic leukemia
    * Juvenile myoclonic epilepsy
    * Juvenile nephronophthisis
    * Juvenile osteoporosis
    * Juvenile Paget disease
    * Juvenile pilocytic astrocytoma
    * Juvenile polyposis syndrome
    * Juvenile Scleroderma
    * Juvenile temporal arteritis
    * Juvenile-onset dystonia



    K


    * Kabuki syndrome
    * Kaler Garrity Stern syndrome
    * Kallikrein hypertension
    * Kallmann syndrome 2
    * Kallmann syndrome, type 1, X-linked
    * Kallmann syndrome, type 3, recessive
    * Kantaputra Gorlin syndrome
    * Kanzaki disease
    * Kaolin pneumoconiosis
    * Kaplan Plauchu Fitch syndrome
    * Kaplowitz Bodurtha syndrome
    * Kaposi sarcoma
    * Kaposiform Hemangioendothelioma
    * Kapur Toriello syndrome
    * Karandikar Maria Kamble syndrome
    * Kartagener syndrome
    * Kashani Strom Utley syndrome
    * Kasznica Carlson Coppedge syndrome
    * Katsantoni Papadakou Lagoyanni syndrome
    * Kaufman oculocerebrofacial syndrome
    * Kawasaki syndrome
    * KBG syndrome
    * Kearns Sayre syndrome
    * Kennedy disease
    * Kennerknecht Sorgo Oberhoffer syndrome
    * Kennerknecht Vogel syndrome
    * Kenny Caffey syndrome
    * Kenny-Caffey syndrome, Type 1
    * Keratitis, hereditary
    * Keratoacanthoma
    * Keratoacanthoma familial
    * Keratoconjunctivitis sicca
    * Keratoconus
    * Keratoconus posticus circumscriptus
    * Keratoderma palmoplantar deafness
    * Keratoderma palmoplantar spastic paralysis
    * Keratoderma palmoplantaris transgrediens
    * Keratolytic winter erythema
    * Keratomalacia
    * Keratosis focal palmoplantar gingival
    * Keratosis follicularis dwarfism cerebral atrophy
    * Keratosis follicularis spinulosa decalvans
    * Keratosis palmoplantar periodontopathy
    * Keratosis palmoplantaris adenocarcinoma of the colon
    * Keratosis palmoplantaris papulosa
    * Keratosis palmoplantaris striata 1
    * Keratosis palmoplantaris striata 3
    * Keratosis palmoplantaris with esophageal cancer
    * Keratosis, seborrheic
    * Kerion celsi
    * Kernicterus
    * Keshan disease
    * Keutel syndrome
    * KID syndrome
    * Kidney cancer
    * Kienbock's disease
    * Kifafa seizure disorder
    * Kikuchi disease
    * Kimura disease
    * King Denborough syndrome
    * Klatskin tumor
    * Klebsiella
    * Kleeblattschaedel syndrome
    * Kleine Levin Syndrome
    * Kleiner Holmes syndrome
    * Klinefelter syndrome
    * Klinefelter syndrome, variants
    * Klippel Feil syndrome dominant type
    * Klippel Feil syndrome recessive type
    * Klippel Trenaunay syndrome
    * Klumpke paralysis
    * Kluver Bucy syndrome
    * Kniest dysplasia
    * Kniest like dysplasia lethal
    * Knobloch syndrome
    * Knuckle pads, leuconychia and sensorineural deafness
    * Kocher-Debre-Semelaigne syndrome
    * Kohler disease
    * Kohlschutter Tonz syndrome
    * Konigsmark Knox Hussels syndrome
    * Koone Rizzo Elias syndrome
    * Kosztolanyi syndrome
    * Kotzot-Richter syndrome
    * Kousseff Nichols syndrome
    * Kowarski syndrome
    * Kozlowski Brown Hardwick syndrome
    * Kozlowski Celermajer Tink syndrome
    * Kozlowski Ouvrier syndrome
    * Kozlowski Rafinski Klicharska syndrome
    * Kozlowski Tsuruta Taki syndrome
    * Kozlowski Warren Fisher syndrome
    * Kozlowski-Krajewska syndrome
    * Krabbe leukodystrophy
    * Krasnow Qazi syndrome
    * Krause-Kivlin syndrome
    * Krauss Herman Holmes syndrome
    * Krieble Bixler syndrome
    * Krukenberg carcinoma
    * Kurczynski Casperson syndrome
    * Kuskokwim disease
    * Kuster Majewski Hammerstein syndrome
    * Kuster syndrome
    * Kyasanur Forrest disease
    * Kyphomelic dysplasia
    * Kyphosis brachyphalangy optic atrophy
    * Kyrle disease

  5. #5
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    L


    * Labrador lung
    * Labyrinthitis syndrome
    * Lachiewicz Sibley syndrome
    * Lacrimoauriculodentodigital syndrome
    * Lactate dehydrogenase deficiency
    * Lactate dehydrogenase deficiency type A
    * Lactate dehydrogenase deficiency type B
    * Lactate dehydrogenase deficiency type C
    * Lactic acidosis congenital infantile
    * Ladda Zonana Ramer syndrome
    * Lafora disease
    * Lagophthalmia cleft lip palate
    * Lambdoid synostosis
    * Lambert syndrome
    * Lambert-Eaton Myasthenic Syndrome
    * Lamellar ichthyosis
    * Lamellar ichthyosis, autosomal dominant form
    * Lamellar ichthyosis, type 2
    * Lamellar ichthyosis, type 3
    * Lamellar recessive ichthyosis
    * Landau-Kleffner syndrome
    * Landouzy-Dejerine muscular dystrophy
    * Landy Donnai syndrome
    * Langer mesomelic dysplasia
    * Langer Nishino Yamaguchi syndrome
    * Langerhans cell histiocytosis
    * Laparoschisis
    * Laplane Fontaine Lagardere syndrome
    * Large B cell diffuse lymphoma
    * Large granular lymphocyte leukemia
    * Laron syndrome type 2
    * Laron-type dwarfism
    * Larsen like osseous dysplasia dwarfism
    * Larsen like syndrome, lethal type
    * Larsen syndrome
    * Larsen syndrome craniosynostosis
    * Larsen syndrome, dominant type
    * Larsen syndrome, recessive type
    * Laryngeal abductor paralysis mental retardation
    * Laryngeal carcinoma
    * Laryngeal cleft
    * Laryngeal papillomatosis
    * Laryngeal web congenital heart disease short stature
    * Laryngocele
    * Laryngomalacia
    * Laryngomalacia dominant congenital
    * Larynx atresia
    * Lassueur-Graham-Little syndrome
    * Late onset dominant cone dystrophy
    * Late-onset congenital adrenal hyperplasia
    * Lateral body wall defect
    * Lateral meningocele syndrome
    * Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
    * Laterality defects dominant
    * Lathosterolosis
    * Lattice corneal dystrophy type 1
    * Lattice corneal dystrophy type 2
    * Laugier-Hunziker syndrome
    * Launois-Bensaude adenolipomatosis
    * Laurence Prosser Rocker syndrome
    * Laurin-Sandrow syndrome
    * LBWD syndrome
    * LCAD deficiency
    * LCHAD deficiency
    * Le Marec Bracq Picaud syndrome
    * Leao Ribeiro Da Silva syndrome
    * Learman syndrome
    * Leber congenital amaurosis type 3
    * Leber congenital amaurosis, type 4
    * Leber miliary aneurysm
    * Leber optic atrophy
    * Ledderhose disease
    * Left ventricle-aorta tunnel
    * Left-sided gallbladder
    * Leg absence deformity cataract
    * Legg-Calvé-Perthes syndrome
    * Legionellosis
    * Legionnaire's disease
    * Lehman syndrome
    * Leichtman Wood Rohn syndrome
    * Leifer Lai Buyse syndrome
    * Leigh syndrome
    * Leigh syndrome , French Canadian type
    * Leiner disease
    * Leiomyoma of vulva and esophagus
    * Leiomyomatosis and renal cell cancer, hereditary
    * Leiomyomatosis familial
    * Leiomyomatosis of esophagus, cataract and hematuria
    * Leiomyomatosis, esophageal and vulval, with nephropathy
    * Leiomyosarcoma
    * Leipala Kaitila syndrome
    * Leishmaniasis
    * Leisti Hollister Rimoin syndrome
    * Lemierre's syndrome
    * Lenegre disease
    * Lentiginosis in context of NF
    * Lentigo maligna melanoma
    * Lenz Majewski hyperostotic dwarfism
    * LEOPARD syndrome, 1
    * LEOPARD syndrome, 2
    * Leprechaunism
    * Leprosy
    * Leptomeningeal capillary - venous angiomatosis
    * Leptospirosis
    * Leri pleonosteosis
    * Leri-Weil syndrome
    * Lesch Nyhan syndrome
    * Lethal chondrodysplasia Moerman type
    * Lethal chondrodysplasia Seller type
    * Lethal congenital contracture syndrome 1
    * Lethal congenital contracture syndrome 2
    * Letterer-Siwe disease
    * Leucocyte adhesion defect
    * Leukemia subleukemic
    * Leukemia, B-cell, chronic
    * Leukemia, mast-cell
    * Leukemia, Myeloid
    * Leukemia, T-cell, chronic
    * Leukocyte adhesion deficiency type 1
    * Leukocytoclastic angiitis
    * Leukodystrophy
    * Leukodystrophy reunion type
    * Leukodystrophy with oligodontia
    * Leukodystrophy, psuedometachromatic
    * Leukoencephalopathy palmoplantar keratoderma
    * Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
    * Leukomalacia
    * Leukomelanoderma mental redardation hypotrichosis
    * Leukonychia totalis
    * Leukoplakia
    * Levator syndrome
    * Levic Stefanovic Nikolic syndrome
    * Levine Crichley syndrome
    * Levotransposition of the great arteries
    * Lewandowski Kikolich syndrome
    * Lewis Pashayan syndrome
    * Lewy body dementia
    * Leydig cells hypoplasia
    * Lhermitte-Duclos disease
    * Li Fraumeni syndrome
    * Lichen planus follicularis
    * Lichen sclerosis et atrophicus
    * Lichtenstein syndrome
    * Light chain disease
    * Limb deficiencies distal micrognathia
    * Limb dystonia
    * Limb reduction defect
    * Limb scalp and skull defects
    * Limb transversal defect cardiac anomaly
    * Limb-body wall complex
    * Limb-girdle muscular dystrophy
    * Limb-girdle muscular dystrophy autosomal dominant
    * Limb-girdle muscular dystrophy type 2A
    * Limb-girdle muscular dystrophy type 2F
    * Limb-girdle muscular dystrophy type 2H
    * Limb-girdle muscular dystrophy with delta-sarcoglyan deficiency
    * Limb-girdle muscular dystrophy, type 1B
    * Limb-girdle muscular dystrophy, type 2B
    * Limb-girdle muscular dystrophy, type 2C
    * Limb-girdle muscular dystrophy, type 2D
    * Limb-girdle muscular dystrophy, type 2E
    * Limbic encephalitis
    * Limb-mammary syndrome
    * Limited systemic sclerosis
    * Lindsay Burn syndrome
    * Lindstrom syndrome
    * Linear hamartoma syndrome
    * Linear porokeratosis
    * Lip and oral cavity cancer
    * Lip lit syndrome
    * Lipase deficiency combined
    * Lipid storage myopathy
    * Lipidosis with triglycerid storage disease
    * Lipoamide dehydrogenase deficiency
    * Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules
    * Lipodermatosclerosis
    * Lipodystrophy
    * Lipodystrophy, familial partial, type 2
    * Lipogranulomatosis
    * Lipoid congenital adrenal hyperplasia
    * Lipoid proteinosis of Urbach and Wiethe
    * Lipomatosis central non-encapsulated
    * Lipomatosis familial benign cervical
    * Lipomatous hemangiopericytoma
    * Lipomyelomeningocele
    * Lipoprotein disorder
    * Liposarcoma
    * Lissencephaly
    * Lissencephaly immunodeficiency
    * Lissencephaly syndrome type 1
    * Lissencephaly syndrome type 2
    * Lissencephaly, isolated
    * Listeria infection
    * Listeriosis
    * Littoral cell angioma of the spleen
    * Liver neoplasms
    * Lobar atrophy of brain
    * Lobstein disease
    * Localized epiphyseal dysplasia
    * Localized scleroderma
    * Locked-in syndrome
    * Lockwood Feingold syndrome
    * Loeys-Dietz syndrome
    * Loffredo Cennamo Cecio syndrome
    * Logic syndrome
    * Loiasis
    * Loin pain hematuria syndrome
    * Long QT syndrome type 1
    * Long QT syndrome type 2
    * Long QT syndrome type 3
    * Loose anagen hair syndrome
    * Loose anagene syndrome
    * Lopes Gorlin syndrome
    * Lopes Marques de Faria syndrome
    * Lopez Hernandez syndrome
    * Lou Gehrig's disease
    * Low birth weight dwarfism dysgammaglobulinemia
    * Lowe Kohn Cohen syndrome
    * Lowe oculocerebrorenal syndrome
    * Lower limb anomaly ureteral obstruction
    * Lower limb deficiency hypospadias
    * Lower mesodermal defects
    * Lowry Maclean syndrome
    * Lowry syndrome
    * Lowry Wood syndrome
    * Lowry Yong syndrome
    * Lubani Al Saleh Teebi syndrome
    * Lubinsky syndrome
    * Lubs X-linked mental retardation syndrome
    * Lucey Driscoll syndrome
    * Lucky Gelehrter syndrome
    * Lúes Congénita
    * Lujan Fryns syndrome
    * Lumbar malsegmentation short stature
    * Lundberg syndrome
    * Lung agenesis
    * Lung herniation congenital defect of sternem
    * Lurie Kletsky syndrome
    * Luteinizing hormone releasing hormone, deficiency of with ataxia
    * Lutz Richner Landolt syndrome
    * Lutz-Lewandowsky epidermodysplasia verruciformis
    * Lymph node neoplasm
    * Lymphadenopathy, angioimmunoblastic with dysproteinemia
    * Lymphangiectasia, pulmonary, congenital
    * Lymphangiectasis
    * Lymphangioleiomyomatosis
    * Lymphangioma
    * Lymphangiomatosis, pulmonary
    * Lymphatic filariasis
    * Lymphatic neoplasm
    * Lymphedema distichiasis syndrome
    * Lymphedema hereditary type 1
    * Lymphedema hereditary type 2
    * Lymphedema ptosis
    * Lymphedema, microcephaly and chorioretinopathy syndrome
    * Lymphedema, congenital
    * Lymphoblastic lymphoma
    * Lymphocytes absent
    * Lymphocytic colitis
    * Lymphocytic infiltrate of Jessner
    * Lymphocytic vasculitis
    * Lymphogranuloma venereum (LGV) (caused by Chlamydia trachomatis)
    * Lymphoid hamartoma
    * Lymphoma, AIDS-related
    * Lymphoma, gastric non Hodgkins type
    * Lymphoma, large-cell
    * Lymphoma, large-cell, immunoblastic
    * Lymphoma, small cleaved-cell, diffuse
    * Lymphoma, small cleaved-cell, follicular
    * Lymphomatoid granulomatosis
    * Lymphomatoid papulosis
    * Lymphomatous thyroiditis
    * Lymphosarcoma
    * Lynch cancer family syndrome 2
    * Lynch Lee Murday syndrome
    * Lysine alpha-ketoglutarate reductase deficiency
    * Lysinuric protein intolerance
    * Lysteria monocytoigeneses meningitis



    M


    * Mac Dermot Winter syndrome
    * Macleod Fraser syndrome
    * Macrocephaly mesodermal hamartoma spectrum
    * Macrocephaly, benign familial
    * Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations
    * Macrodactyly of the foot
    * Macrodactyly of the hand
    * Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
    * Macroglossia
    * Macrogyria, pseudobulbar palsy and mental retardation
    * Macrophagic myofasciitis
    * Macrosomia with lethal microphthalmia
    * Macrothrombocytopenia progressive deafness
    * Macular dystrophy, atypical vitelliform
    * Macular dystrophy, concentric annular
    * Macular dystrophy, corneal type 1
    * Macular dystrophy, retinal, 1, North Carolina type
    * Macules hereditary congenital hypopigmented and hyperpigmented
    * Madelung's disease
    * Madokoro Ohdo Sonoda syndrome
    * Maffucci syndrome
    * Majeed syndrome
    * Mal de debarquement
    * Malakoplakia
    * Malaria
    * Male pseudohermaphroditism due to defective LH molecule
    * Male pseudohermaphroditism/mental retardation syndrome, Verloes type
    * Malformations in neuronal migration
    * Malignant astrocytoma
    * Malignant fibrous histiocytoma
    * Malignant germ cell tumor
    * Malignant hyperthermia
    * Malignant hyperthermia arthrogryposis torticollis
    * Malignant hyperthermia susceptibility type 1
    * Malignant hyperthermia susceptibility type 2
    * Malignant hyperthermia susceptibility type 3
    * Malignant hyperthermia susceptibility type 4
    * Malignant hyperthermia susceptibility type 5
    * Malignant hyperthermia susceptibility type 6
    * Malignant mesenchymal tumor
    * Malignant mixed Mullerian tumor
    * Malignant paroxysmal ventricular tachycardia
    * Malignant Teratocarcinosarcoma
    * Mallory-Weiss syndrome
    * Malonic aciduria
    * Malouf syndrome
    * Malpuech facial clefting syndrome
    * Mandibuloacral dysplasia with type A lipodystrophy
    * Mandibuloacral dysplasia with type B lipodystrophy
    * Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
    * Mannosidosis, beta A, lysosomal
    * Manouvrier syndrome
    * Mansonelliasis
    * Mantle cell lymphoma
    * Manz syndrome
    * Maple syrup urine disease
    * Maple syrup urine disease, type 1A
    * Maple syrup urine disease, type 1B
    * Maple syrup urine disease, type 2
    * Marburg hemorrhagic fever
    * Marchiafava Bignami disease
    * Marchiafava-Micheli disease
    * Marcus Gunn phenomenon
    * Marden Walker like syndrome
    * Marden-Walker syndrome
    * Marek disease
    * Marfan syndrome
    * Marfan Syndrome type 2
    * Marfan Syndrome type 3
    * Marfan Syndrome type 4
    * Marfan Syndrome type 5
    * Marfan-Like syndrome
    * Marfan-like syndrome, Boileau type
    * Marfanoid hypermobility
    * Marfanoid mental retardation syndrome autosomal
    * Marginal glioneuronal heterotopia
    * Marie type ataxia
    * Marie Unna congenital hypotrichosis
    * Marinesco-Sjogren syndrome
    * Marinesco-Sjogren-like syndrome (MSLS)
    * Markel Vikkula Mulliken syndrome
    * Marles Greenberg Persaud syndrome
    * Maroteaux Fonfria syndrome
    * Maroteaux Stanescu Cousin syndrome
    * Maroteaux Verloes Stanescu syndrome
    * Marphanoid syndrome type De Silva
    * Marsden Nyhan Sakati syndrome
    * Marsden syndrome
    * Marshall syndrome
    * Marshall-Smith syndrome
    * Martinez Monasterio Pinheiro syndrome
    * Martsolf syndrome
    * MASA syndrome
    * MASS syndrome
    * Massa Casaer Ceulemans syndrome
    * Mast cell disease
    * Mastocytic enterocolitis
    * Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
    * Mastroiacovo De Rosa Satta syndrome
    * Mastroiacovo Gambi Segni syndrome
    * MAT deficiency
    * Maternal hyperphenylalaninemia
    * Maternally inherited diabetes and deafness
    * Maternally Inherited Leigh Syndrome
    * Mathieu De Broca Bony syndrome
    * Matsoukas Liarikos Giannika syndrome
    * Maturity onset diabetes of the young
    * Maumenee syndrome
    * Maxillary double lip
    * Maxillofacial dysostosis
    * Maxillonasal dysplasia, Binder type
    * May-Hegglin anomaly
    * MCAD deficiency
    * McAlister Crane syndrome
    * McCallum Macadam Johnston syndrome
    * McCune Albright syndrome
    * McDonough syndrome
    * McDowall syndrome
    * McGillivray syndrome
    * McKusick Kaufman syndrome
    * McLain Debakian syndrome
    * McPherson Clemens syndrome
    * McPherson Robertson Cammarano syndrome
    * Meacham Winn Culler syndrome
    * Meadows syndrome
    * Measles
    * Meckel syndrome type 2
    * Meckel syndrome type 3
    * Meckel syndrome type1
    * Medeira Dennis Donnai syndrome
    * Medial Medullary Syndrome
    * Median cleft lip, corpus callosum, lipoma, and skin polyps
    * Median nodule of the upper lip
    * Mediastinal endodermal sinus tumors
    * Mediastinal Fibrosis
    * Medrano Roldan syndrome
    * Medullary cystic kidney disease 1
    * Medullary sponge kidney
    * Medulloblastoma
    * Megacystis microcolon intestinal hypoperistalsis syndrome
    * Megaduodenum
    * Megaepiphyseal dwarfism
    * Megalencephalic leukoencephalopathy with subcortical cysts
    * Megalencephaly cutis marmorata telangiectatica congenita
    * Megaloblastic anemia
    * Megalocornea mental retardation syndrome
    * Megalocytic interstitial nephritis
    * Megarbane syndrome
    * Mehes syndrome
    * Mehta Lewis Patton syndrome
    * Meier Blumberg Imahorn syndrome
    * Meier Rotschild syndrome
    * Meige syndrome
    * Meigel disease
    * Meinecke Pepper syndrome
    * Meinecke syndrome
    * Melanoma astrocytoma syndrome
    * Melanoma of the choroid
    * Melanoma of the ciliary body
    * Melanoma of the iris
    * Melanoma, familial
    * MELAS
    * Meleda Disease
    * Melhem Fahl syndrome
    * Meliodosis
    * Melkersson-Rosenthal syndrome
    * Melnick-Needles syndrome
    * Melorheostosis
    * Membranoproliferative glomerulonephritis (type 2)
    * Membranous nephropathy, idiopathic
    * Mendelian susceptibility to atypical mycobacteria
    * Mengel Konigsmark syndrome
    * Meningeal angiomatosis cleft hypoplastic left heart
    * Meningioma, familial
    * Meningocele
    * Meningococcal infection
    * Meningococcemia
    * Meningoencephalocele
    * Meningoencephalocele-arthrogryposis-hypoplastic thumb
    * Meningomyelocele
    * Menkes syndrome
    * Mental deficiency-epilepsy-endocrine disorders
    * Mental mixed retardation deafnes clubbed digits
    * Mental retardation anophthalmia craniosynostosis
    * Mental retardation arachnodactyly hypotonia telangiectasia
    * Mental retardation athetosis microphthalmia
    * Mental retardation blepharophimosis obesity web neck
    * Mental retardation Buenos Aires type
    * Mental retardation cataracts calcified pinnae myopathy
    * Mental retardation coloboma slimness
    * Mental retardation contractural arachnodactyly
    * Mental retardation dysmorphism hypogonadism diabetes
    * Mental retardation epilepsy
    * Mental retardation epilepsy bulbous nose
    * Mental retardation gynecomastia obesity X-linked
    * Mental retardation hip luxation G6PD variant
    * Mental retardation hypocupremia hypobetalipoproteinemia
    * Mental retardation hypotonia skin hyperpigmentation
    * Mental retardation macrocephaly coarse facies hypotonia
    * Mental retardation microcephaly phalangeal facial
    * Mental retardation microcephaly unusual facies
    * Mental retardation Mietens Weber type
    * Mental retardation multiple nevi
    * Mental retardation myopathy short stature endocrine defect
    * Mental retardation nasal hypoplasia obesity genital hypoplasia
    * Mental retardation nasal papillomata
    * Mental retardation osteosclerosis
    * Mental retardation progressive spasticity
    * Mental retardation psychosis macroorchidism
    * Mental retardation short broad thumbs
    * Mental retardation short stature absent phalanges
    * Mental retardation short stature Bombay phenotype
    * Mental retardation short stature cleft palate unusual facies
    * Mental retardation short stature deafness genital
    * Mental retardation short stature hand contractures genital anomalies
    * Mental retardation short stature heart and skeletal anomalies
    * Mental retardation short stature hypertelorism
    * Mental retardation short stature microcephaly eye
    * Mental retardation short stature ocular and articular anomalies
    * Mental retardation short stature scoliosis
    * Mental retardation short stature unusual facies
    * Mental retardation skeletal dysplasia abducens palsy
    * Mental retardation Smith Fineman Myers type
    * Mental retardation spasticity ectrodactyly
    * Mental retardation syndrome, Belgian type
    * Mental retardation unusual facies
    * Mental retardation unusual facies talipes hand anomalies
    * Mental retardation Wolff type
    * Mental retardation X-linked borderline Maoa metabolism anomaly
    * Mental retardation X-linked Brunner type
    * Mental retardation X-linked dysmorphism
    * Mental retardation X-linked dystonia dysarthria
    * Mental retardation X-linked short stature obesity
    * Mental retardation X-linked syndromic 7
    * Mental retardation X-linked, South African type
    * Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
    * Mental retardation, keratoconus, febrile seizures, and sinoatrial block
    * Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
    * Mental retardation, X-linked 14
    * Mental retardation, X-linked, nonspecific
    * Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
    * Mental retardation-hypotonic facies syndrome, x-linked, 1
    * Mental retardation-polydactyly-uncombable hair
    * Meralgia paresthetica
    * Mercury poisoning
    * Meretoja syndrome
    * Merkel cell cancer
    * Merlob Grunebaum Reisner syndrome
    * Merlob syndrome
    * Mesangial proliferative glomerulonephritis
    * Mesangial sclerosis, diffuse
    * Mesenteric artery ischemia
    * Mesenteric Panniculitis
    * Mesodermal defects lower type
    * Mesomelia
    * Mesomelia-synostoses syndrome
    * Mesomelic dwarfism cleft palate camptodactyly
    * Mesomelic dwarfism Reinhardt Pfeiffer type
    * Mesomelic dysplasia skin dimples
    * Mesomelic syndrome Pfeiffer type
    * Mesothelioma, adult malignant
    * Metabolic disorder
    * Metacarpals 4 and 5 fusion
    * Metachondromatosis
    * Metachromatic leukodystrophy
    * Metagonimiasis
    * Metaphyseal acroscyphodysplasia
    * Metaphyseal anadysplasia
    * Metaphyseal chondrodysplasia Schmid type
    * Metaphyseal chondrodysplasia Spahr type
    * Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
    * Metaphyseal chondrodysplasia, others
    * Metaphyseal dysostosis mental retardation conductive deafness
    * Metaphyseal dysplasia maxillary hypoplasia brachydactyly
    * Metaphyseal dysplasia Pyle type
    * Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
    * Metastatic insulinoma
    * Metastatic squamous neck cancer with occult primary
    * Metatarsus adductus
    * Metatrophic dysplasia
    * Metatropic dwarfism
    * Methimazole antenatal infection
    * Methionine adenosyl transferase deficiency
    * Methyl mercury antenatal infection
    * Methylcobalamin deficiency cbl G type
    * Methylcobalamin deficiency, cbl E complementation type
    * Methylenetetrahydrofolate reductase deficiency
    * Methylmalonic acidemia
    * Methylmalonic acidemia with homocystinuria
    * Methylmalonic aciduria cblA type
    * Methylmalonic aciduria cblB type
    * Methylmalonic aciduria microcephaly cataract
    * Methylmalonicacidemia with homocystinuria, cbl D
    * Methylmalonicaciduria with homocystinuria, cbl F
    * Methylmalonyl-Coenzyme A mutase deficiency
    * Mevalonic aciduria
    * Meyenburg-Altherr-Uehlinger syndrome
    * MHC class 1 or class 2 deficiency
    * Michelin tire baby syndrome
    * Michels Caskey syndrome
    * Mickleson syndrome
    * Micrencephaly corpus callosum agenesis
    * Micrencephaly olivopontocerebellar hypoplasia
    * Micro syndrome
    * Microbrachycephaly ptosis cleft lip
    * Microcephalic osteodysplastic primordial dwarfism, type 1
    * Microcephalic osteodysplastic primordial dwarfism, type 2
    * Microcephalic osteodysplastic primordial dwarfism, type 3
    * Microcephalic primordial dwarfism
    * Microcephalic primordial dwarfism Toriello type
    * Microcephaly
    * Microcephaly albinism digital anomalies syndrome
    * Microcephaly autosomal dominant
    * Microcephaly brachydactyly kyphoscoliosis
    * Microcephaly brain defect spasticity hypernatremia
    * Microcephaly cardiac defect lung malsegmentation
    * Microcephaly cardiomyopathy
    * Microcephaly cervical spine fusion anomalies
    * Microcephaly chorioretinopathy recessive form
    * Microcephaly deafness syndrome
    * Microcephaly developmental delay pancytopenia
    * Microcephaly glomerulonephritis Marfanoid habitus
    * Microcephaly hypergonadotropic hypogonadism short stature
    * Microcephaly immunodeficiency lymphoreticuloma
    * Microcephaly mental retardation retinopathy
    * Microcephaly mental retardation spasticity epilepsy
    * Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome
    * Microcephaly microcornea syndrome Seemanova type
    * Microcephaly micropenis convulsions
    * Microcephaly microphthalmos blindness
    * Microcephaly nonsyndromal
    * Microcephaly pontocerebellar hypoplasia dyskinesia
    * Microcephaly seizures mental retardation heart disorders
    * Microcephaly sparse hair mental retardation seizures
    * Microcephaly with chorioretinopathy, autosomal dominant form
    * Microcephaly with normal intelligence, immunodeficiency
    * Microcephaly with spastic quadriplegia
    * Microcephaly, corpus callosum dysgenesis and cleft lip-palate
    * Microcephaly, hiatal hernia and nephrotic syndrome
    * Microcephaly, holoprosencephaly, and intrauterine growth retardation
    * Microcephaly, primary autosomal recessive
    * Microcoria, congenital
    * Microcornea corectopia macular hypoplasia
    * Microcornea, glaucoma, and absent frontal sinuses
    * Microdontia hypodontia short stature
    * Microencephaly
    * Microgastria limb reduction defect
    * Microhydranencephaly
    * Micromelic dwarfism Fryns type
    * Micromelic dysplasia, congenital, with dislocation of radius
    * Microphthalmia
    * Microphthalmia and mental deficiency
    * Microphthalmia associated with colobomatous cyst
    * Microphthalmia camptodactyly mental retardation
    * Microphthalmia cataract
    * Microphthalmia diaphragmatic hernia Fallot
    * Microphthalmia mental deficiency
    * Microphthalmia microtia fetal akinesia
    * Microphthalmia, isolated, with corectopia
    * Microphthalmia, Lentz type
    * Microphthalmia, syndromic 1
    * Microphthalmia, syndromic 2
    * Microphthalmia, syndromic 7
    * Microscopic polyangiitis
    * Microsomia hemifacial radial defects
    * Microspherophakia with hernia
    * Microsporidiosis
    * Microtia, meatal atresia and conductive deafness
    * Microvillus inclusion disease
    * Midline cleft of lower lip
    * Midline defects autosomal type
    * Midline defects recessive type
    * Midline developmental field defects
    * Midline field defects
    * Midline lethal granuloma
    * Midphalangeal hair
    * Mikulicz' Disease
    * Mikulicz syndrome
    * Miles-Carpenter x-linked mental retardation syndrome
    * Miller Fisher syndrome
    * Miller-Dieker syndrome
    * Milner Khallouf Gibson syndrome
    * Minicore myopathy, antenatal onset, with arthrogryposis
    * Mirizzi syndrome
    * Mirror polydactyly segmentation and limbs defects
    * Mitochondrial complex I deficiency
    * Mitochondrial diseases, clinically undefinite
    * Mitochondrial encephalomyopathy aminoacidopathy
    * Mitochondrial myopathy with lactic acidosis
    * Mitochondrial myopathy-encephalopathy-lactic acidosis
    * Mitochondrial neurogastrointestinal encephalopathy syndrome
    * Mitochondrial trifunctional protein deficiency
    * Mitral atresia
    * Mitral regurgitation deafness skeletal anomalies
    * Mitral valve prolapse, familial, autosomal dominant
    * Mitral valve prolapse, familial, X-linked
    * Miura syndrome
    * Mixed connective tissue disease
    * Mixed sclerosing bone dystrophy
    * Miyoshi myopathy
    * MMEP syndrome
    * MN1
    * Mobius syndrome
    * MODY syndrome
    * Moebius axonal neuropathy hypogonadism
    * Moebius syndrome 1
    * Mohr syndrome
    * Mohr-Tranebjaerg syndrome
    * Mollica Pavone Antener syndrome
    * Moloney syndrome
    * Molybdenum cofactor deficiency
    * MOMO syndrome
    * Mondini Dysplasia
    * Mondor's disease
    * Monilethrix
    * Monoamine oxidase A deficiency
    * Monoclonal gammopathy of undetermined significance
    * Monodactyly tetramelic
    * Mononen Karnes Senac syndrome
    * Mononeuritis multiplex
    * Monosomy 8q12 21
    * Monosomy 8q21 q22
    * Monosomy X
    * Montefiore syndrome
    * Moore Smith Weaver syndrome
    * Morel's ear
    * Moreno Zachai Kaufman syndrome
    * Morgagni-Stewart-Morel syndrome
    * Morgellons
    * Morillo-Cucci Passarge syndrome
    * MORM syndrome
    * Morquio syndrome
    * Morquio syndrome, type B
    * Morse Rawnsley Sargent syndrome
    * Morvan's fibrillary chorea
    * Mosaic variegated aneuploidy syndrome
    * Motor neuron disease
    * Motor neuro-ophthalmic disorders
    * Motor neuropathy
    * Motor neuropathy peripheral with dysautonomia
    * Motor sensory neuropathy type 1 aplasia cutis congenita
    * Mounier-Kuhn syndrome
    * Mousa Al din Al Nassar syndrome
    * Mowat-Wilson syndrome
    * Moyamoya disease 1
    * Moyamoya disease 2
    * Moyamoya disease 3
    * MPS 3 A
    * MPS 3 B
    * MPS 3 C
    * MPS 3 D
    * MSBD syndrome
    * Mucha-Habermann disease
    * Muckle-Wells syndrome
    * Mucolipidosis type 1
    * Mucolipidosis type 3 A
    * Mucolipidosis type 4
    * Mucopolysaccharidosis
    * Mucopolysaccharidosis type 2 Hunter syndrome- mild form
    * Mucopolysaccharidosis type 2 Hunter syndrome- severe form
    * Mucopolysaccharidosis type 3
    * Mucopolysaccharidosis type 5
    * Mucopolysaccharidosis type 6
    * Mucopolysaccharidosis type 7 Sly syndrome
    * Mucopolysaccharidosis type I Hurler syndrome
    * Mucopolysaccharidosis type I Hurler/Scheie syndrome
    * Mucopolysaccharidosis type I Scheie syndrome
    * Mucopolysaccharidosis type IV-B
    * Muenke Syndrome
    * Mulibrey Nanism syndrome
    * Muller Barth Menger syndrome
    * Mullerian agenesis
    * Mullerian aplasia
    * Mullerian derivatives, persistent
    * Mullerian duct abnormalities galactosemia
    * Mulliez Roux Loterman syndrome
    * Multi-centric Castleman’s Disease
    * Multicentric osteolysis nephropathy
    * Multicentric reticulohistiocytosis
    * Multicore disease
    * Multicystic renal dysplasia, bilateral
    * Multifocal choroiditis
    * Multifocal fibrosclerosis
    * Multifocal heterotopia
    * Multifocal motor neuropathy with conduction block
    * Multifocal ventricular premature beats
    * Multinodular goiter cystic kidney polydactyly
    * Multiple carboxylase deficiency, biotin responsive
    * Multiple carboxylase deficiency, late onset
    * Multiple carboxylase deficiency, propionic acidemia
    * Multiple congenital anomalies mental retardation, growth failure and cleft lip palate
    * Multiple congenital contractures
    * Multiple endocrine neoplasia type 1
    * Multiple endocrine neoplasia type 2A
    * Multiple endocrine neoplasia, type 2
    * Multiple endocrine neoplasia, type 2B
    * Multiple fibrofolliculoma familial
    * Multiple hereditary exostoses
    * Multiple joint dislocations metaphyseal dysplasia
    * Multiple myeloma
    * Multiple pterygium syndrome
    * Multiple pterygium syndrome lethal type
    * Multiple sclerosis ichthyosis factor 8 deficiency
    * Multiple sulfatase deficiency
    * Multiple synostoses syndrome 1
    * Multiple synostoses syndrome 2
    * Multiple system atrophy
    * Multiple system atrophy (MSA) with orthostatic hypotension
    * Multiple vertebral anomalies unusual facies
    * Mumps
    * Munchausen by proxy syndrome
    * MURCS association
    * Muscle eye brain disease
    * Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus
    * Muscular dystrophy
    * Muscular Dystrophy - Late Onset
    * Muscular dystrophy congenital, merosin negative
    * Muscular dystrophy limb girdle type 2A, Erb type
    * Muscular dystrophy white matter spongiosis
    * Muscular dystrophy, congenital, infantile with cataract and hypogonadism
    * Muscular dystrophy, congenital, merosin-positive
    * Muscular dystrophy, Duchenne and Becker type
    * Muscular dystrophy, limb-girdle, type 1A
    * Muscular fibrosis multifocal obstructed vessels
    * Muscular phosphorylase kinase deficiency
    * Myalgia eosinophilia associated with tryptophan
    * Myalgic encephalomyelitis
    * Myasthenia gravis
    * Myasthenia gravis congenital
    * Myasthenia, familial
    * Myasthenia, familial limb-girdle
    * Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
    * Myasthenic syndrome, congenital, slow-channel
    * Mycetoma
    * Mycobacterium avium complex infection
    * Mycobacterium Fortuitum
    * Mycobacterium tuberculosis, susceptibility to infection by
    * Mycoplasmal pneumonia
    * Mycosis fungoides, familial
    * Myelinopathies
    * Myelitis
    * Myelocerebellar disorder
    * Myelocytic leukemia-like syndrome, familial, chronic
    * Myelodysplasia
    * Myelodysplastic myeloproliferative disease
    * Myelodysplastic syndromes
    * Myelofibrosis
    * Myelofibrosis-osteosclerosis
    * Myeloid splenomegaly
    * Myeloperoxidase deficiency
    * Myhre Ruvalcaba Graham syndrome
    * Myhre Ruvalcaba Kelley syndrome
    * Myhre School syndrome
    * Myhre syndrome
    * Myoadenylate deaminase deficiency
    * Myocarditis
    * Myoclonic dystonia
    * Myoclonic progressive familial epilepsy
    * Myoclonus ataxia
    * Myoclonus cerebellar ataxia deafness
    * Myoclonus epilepsy
    * Myoclonus epilepsy partial seizure
    * Myoclonus hereditary progressive distal muscular atrophy
    * Myoclonus progressive epilepsy of Unverricht and Lundborg
    * Myoclonus with epilepsy with ragged red fibers
    * Myofibrillar lysis
    * Myofibroblastic tumors
    * Myoglobinuria
    * Myoglobinuria dominant form
    * Myoglobinuria recurrent
    * Myokymia with neonatal epilepsy
    * Myopathic carnitine deficiency
    * Myopathy and diabetes mellitus
    * Myopathy cataract hypogonadism
    * Myopathy congenital multicore with external ophthalmoplegia
    * Myopathy growth and mental retardation hypospadias
    * Myopathy Hutterite type
    * Myopathy mitochondrial cataract
    * Myopathy ophthalmoplegia hypoacousia areflexia
    * Myopathy with lactic acidosis and sideroblastic anemia
    * Myopathy with lysis of myofibrils
    * Myopathy, congenital nonprogressive with Moebius and Robin sequences
    * Myopathy, desmin storage
    * Myopathy, limb-girdle, with bone fragility
    * Myopathy, McArdle type
    * Myopathy, myotubular
    * Myopathy, tubular aggregate
    * Myopathy, X-linked, with excessive autophagy
    * Myopia 6
    * Myopia, infantile severe
    * Myopia, severe
    * Myositis ossificans
    * Myositis ossificans post-traumatic
    * Myositis ossificans progressiva
    * Myositis, inclusion body
    * Myostatin-related muscle hypertrophy
    * Myotonia atrophica
    * Myotonia mental retardation skeletal anomalies
    * Myxedema
    * Myxoid liposarcoma
    * Myxoma-spotty pigmentation-endocrine overactivity
    * Myxomatous peritonitis
    * Myxozoa

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    N


    * N acetyltransferase deficiency
    * N syndrome
    * Nablus mask-like facial syndrome
    * N-acetyl glucosamine 6-sulfate sulfatase deficiency
    * N-acetyl glutamate synthetase deficiency
    * N-acetyl-alpha-D-galactosaminidase
    * NADH cytochrome B5 reductase deficiency
    * Naegeli syndrome
    * Naguib-Richieri-Costa syndrome
    * Nail dysplasia, isolated congenital
    * Nail Patella syndrome
    * Nakajo syndrome
    * Nakamura Osame syndrome
    * Nance-Horan syndrome
    * Nanism due to growth hormone combined deficiency
    * Narcolepsy
    * Narrow oral fissure short stature cone shaped epiphyses
    * Nasal polyposis, familial
    * Nasodigitoacoustic syndrome
    * Nasopalpebral lipoma coloboma syndrome
    * Nasopharyngeal carcinoma
    * Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia
    * Natal teeth, intestinal pseudoobstruction and patent ductus
    * Nathalie syndrome
    * Native American myopathy
    * Navajo neurohepatopathy
    * Navajo poikiloderma
    * Naxos disease
    * Necrotizing enterocolitis
    * Necrotizing fasciitis
    * Negative rheumatoid factor polyarthritis
    * Neisseria meningitidis
    * Nelson syndrome
    * Nemaline myopathy 1
    * Nemaline Myopathy 2
    * Nemaline myopathy 3
    * Nemaline myopathy 4
    * Nemaline myopathy 5
    * Nemaline myopathy 6
    * NEMO mutation with immunodeficiency
    * Neonatal hemochromatosis
    * Neonatal herpes
    * Neonatal ovarian cyst
    * Neonatal Systemic lupus erythematosus
    * Neonatal-onset citrullinemia type 2
    * Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
    * Nephrocalcinosis
    * Nephrogenic diabetes insipidus
    * Nephrogenic Fibrosing Dermopathy
    * Nephronophthisis familial adult spastic quadriparesis
    * Nephropathic cystinosis
    * Nephropathy deafness hyperparathyroidism
    * Nephropathy familial with hyperuricemia
    * Nephrosclerosis
    * Nephrosis deafness urinary tract digital malformation
    * Nephrotic syndrome ocular anomalies
    * Nephrotic syndrome, idiopathic, steroid-resistant
    * Nerve sheath neoplasm
    * Nesidioblastosis of pancreas
    * Netherton syndrome
    * Neu Laxova syndrome
    * Neuhauser Daly Magnelli syndrome
    * Neuhauser Eichner Opitz syndrome
    * Neural crest tumor
    * Neural tube defect, folate-sensitive
    * Neural tube defects X-linked
    * Neuraminidase deficiency with beta-galactosidase deficiency
    * Neuritis with brachial predilection
    * Neuroaxonal dystrophy renal tubular acidosis
    * Neuroaxonal dystrophy, infantile
    * Neuroblastoma
    * Neurocutaneous melanosis
    * Neuroectodermal endocrine syndrome
    * Neuroectodermal tumors primitive
    * Neuroendocrine carcinoma of the cervix
    * Neuroepithelioma
    * Neurofaciodigitorenal syndrome
    * Neurofibroma
    * Neurofibromatosis type 1
    * Neurofibromatosis type 2
    * Neurofibromatosis type 3
    * Neurofibromatosis type 5
    * Neurofibromatosis, familial intestinal
    * Neurofibromatosis, type 4, of Riccardi
    * Neurofibromatosis-Noonan syndrome
    * Neurofibrosarcoma
    * Neurogenic hypertension
    * Neuroleptic malignant syndrome
    * Neuroma biliary tract
    * Neuronal interstitial dysplasia
    * Neuronal intestinal pseudoobstruction
    * Neuronal intranuclear hyaline inclusion disease
    * Neuronal intranuclear inclusion disease
    * Neuropathy ataxia and retinis pigmentosa
    * Neuropathy hereditary sensory and autonomic type 1
    * Neuropathy motor sensory type 2 deafness mental retardation
    * Neuropathy sensory spastic paraplegia
    * Neuropathy, congenital, with arthrogryposis multiplex
    * Neuropathy, distal hereditary motor, Jerash type
    * Neuropathy, hereditary motor and sensory, LOM type
    * Neuropathy, hereditary motor and sensory, Okinawa type
    * Neuropathy, hereditary motor and sensory, Russe type
    * Neurosarcoidosis
    * Neurosyphilis
    * Neurotoxicity syndromes
    * Neutropenia intermittent
    * Neutropenia monocytopenia deafness
    * Neutropenia, severe chronic
    * Neutrophilic dermatosis, acute febrile
    * Nevi flammei, familial multiple
    * Nevo syndrome
    * Nevoid basal cell carcinoma syndrome
    * Nevus of ota retinitis pigmentosa
    * Nevus sebaceus of Jadassohn
    * Nguyen syndrome
    * Nicolaides Baraitser syndrome
    * Niemann-Pick Disease
    * Niemann-Pick disease type D
    * Niemann-Pick disease, type C1
    * Niemann-Pick disease, type C2
    * Nievergelt syndrome
    * Night blindness skeletal anomalies unusual facies
    * Night blindness, congenital stationary
    * Nijmegen Breakage Syndrome
    * Nipah virus encephalitis
    * Nivelon Nivelon Mabille syndrome
    * Noble Bass Sherman syndrome
    * Nocardiosis
    * Nodular melanoma
    * Noma
    * Non functioning pancreatic endocrine tumor
    * Non-alcoholic steatohepatitis (NASH)
    * Nondystrophic myotonia
    * Non-dystrophic Myotonic Disorders
    * Non-Hodgkin's lymphoma, during pregnancy
    * Noninsulin-dependent diabetes mellitus with deafness
    * Nonkeratan-sulfate-excreting Morquio syndrome
    * Non-lissencephalic cortical dysplasia
    * Nonmedullary thyroid carcinoma, with or without cell oxyphilia
    * Nonne-Milroy disease
    * Nonseminomatous germ cell tumor
    * Non-small cell lung cancer
    * Nonsyndromic hereditary hearing impairment
    * Noonan like syndrome
    * Noonan syndrome
    * Noonan syndrome 3
    * Norman Roberts lissencephaly syndrome
    * Normokalemic periodic paralysis
    * Norrie disease
    * Norum disease
    * Nose polyposis, familial
    * Notalgia paresthetica
    * Nova syndrome
    * Novak syndrome
    * Nuchal bleb, familial
    * Nystagmus 1, congenital, X- linked
    * Nystagmus 2, congenital, autosomal dominant
    * Nystagmus 3, congenital, autosomal dominant
    * Nystagmus 4, congenital, autosomal dominant
    * Nystagmus, congenital motor, autosomal recessive
    * Nystagmus, hereditary vertical
    * Nystagmus, myoclonic



    O


    * O Donnell Pappas syndrome
    * Obstructive asymmetric septal hypertrophy
    * Occipital horn syndrome
    * Occult spinal dysraphism
    * Ochronosis
    * Ochronosis, hereditary
    * Ocular Albinism type 1
    * Ocular cicatricial pemphigoid
    * Ocular coloboma-imperforate anus
    * Ocular convergence spasm
    * Ocular melanoma
    * Ocular motility disorders
    * Ocular Muscular Dystrophy
    * Ocular toxoplasmosis
    * Oculo cerebral dysplasia
    * Oculo cerebro acral syndrome
    * Oculo cerebro osseous syndrome
    * Oculo digital syndrome
    * Oculo skeletal renal syndrome
    * Oculo tricho anal syndrome
    * Oculo tricho dysplasia
    * Oculoauriculofrontonasal syndrome
    * Oculocerebral hypopigmentation syndrome Cross type
    * Oculocerebral hypopigmentation syndrome type Preus
    * Oculocerebral syndrome with hypopigmentation
    * Oculocerebrocutaneous syndrome
    * Oculocerebrorenal syndrome
    * Oculocutaneous albinism type 1
    * Oculocutaneous albinism type 1B
    * Oculocutaneous albinism type 2
    * Oculocutaneous albinism type 3
    * Oculocutaneous tyrosinemia
    * Oculodental syndrome Rutherfurd syndrome
    * Oculodentodigital dysplasia dominant
    * Oculodentodigital syndrome
    * Oculo-dento-digital syndrome
    * Oculodentoosseous dysplasia dominant
    * Oculodentoosseous dysplasia recessive
    * Oculodigitoesophagoduodenal syndrome
    * Oculofaciocardiodental syndrome
    * Oculo-gastrointestinal muscular dystrophy
    * Oculomaxillofacial dysostosis
    * Oculomelic amyoplasia
    * Oculopalatoskeletal syndrome
    * Oculopharyngeal muscular dystrophy
    * Oculorenocerebellar syndrome
    * Odonto onycho dysplasia with alopecia
    * Odontoma
    * Odontoma dysphagia syndrome
    * Odontomicronychial dysplasia
    * Odontoonychodermal dysplasia
    * OFD syndrome type 8
    * OFD syndrome type Figuera
    * Ogilvie's syndrome
    * Oguchi disease
    * Ohtahara syndrome
    * Okamuto Satomura syndrome
    * Oligodactyly tetramelic postaxial
    * Oligodendroglioma
    * Oligomeganephronic renal hypoplasia
    * Oligomeganephrony
    * Oligophernia
    * Oliver McFarlane syndrome
    * Oliver syndrome
    * Olivopontocerebellar atrophies
    * Olivopontocerebellar atrophy deafness
    * Olivopontocerebellar atrophy type 3
    * Olivopontocerebellar hypoplasia, fetal-onset
    * Ollier disease
    * Olmsted syndrome
    * Omenn syndrome
    * Omodysplasia type 1
    * Omphalocele cleft palate syndrome lethal
    * Omphalocele exstrophy imperforate anus
    * Omphalomesenteric cyst
    * Omsk hemorrhagic fever
    * Onat syndrome
    * Onchocerciasis
    * Oncocytoma, renal
    * Oncogenic osteomalacia
    * Onychotrichodysplasia and neutropenia
    * Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome
    * Ophthalmoplegic Muscular dystrophy
    * Opisthorchiasis
    * Opitz Reynolds Fitzgerald syndrome
    * Opitz syndrome
    * Oppositional defiant disorder
    * Opsismodysplasia
    * Opthalmic icthyosis
    * Opthalmo acromelic syndrome
    * Opthalmomandibulomelic dysplasia
    * Opthalmoplegia ataxia hypoacusis
    * Opthalmoplegia mental retardation lingua scrotalis
    * Opthalmoplegia myalgia tubular aggregates
    * Opthalmoplegia progressive external scoliosis
    * Optic atrophy 1
    * Optic atrophy 1 and deafness
    * Optic atrophy 2
    * Optic atrophy 5
    * Optic atrophy 6
    * Optic atrophy and cataract, autosomal dominant
    * Optic atrophy opthalmoplegia ptosis deafness myopia
    * Optic atrophy polyneuropathy deafness
    * Optic nerve disorder
    * Optic nerve hypoplasia, familial bilateral
    * Optic neuropathy, anterior ischemic
    * Optic pathway glioma
    * Opticoacoustic nerve atrophy dementia
    * Oral cancer
    * Oral facial digital syndrome
    * Oral facial digital syndrome, type 3
    * Oral facial dyskinesia
    * Oral leukoplakia
    * Oral lichen planus
    * Oral lichenoid lesions
    * Oral pharyngeal disorders
    * Oral squamous cell carcinoma
    * Oral submucous fibrosis
    * Oral-facial cleft
    * Orbital lymphangioma
    * Orbital lymphoma
    * Organic acidemia
    * Organic brain syndrome
    * Organic mood syndrome
    * Organic personality syndrome
    * Ornithine aminotransferase deficiency
    * Ornithine Transcarbamylase Deficiency
    * Ornithinemia
    * Oro acral syndrome
    * Orofaciodigital syndrome 4
    * Orofaciodigital syndrome Gabrielli type
    * Orofaciodigital syndrome Thurston type
    * Orofaciodigital syndrome type 2
    * Orofaciodigital syndrome type1
    * Orofaciodigital syndrome, Shashi type
    * Oropharyngeal cancer, adult
    * Orotic aciduria hereditary
    * Orotic aciduria purines-pyrimidines
    * Oroticaciduria 1
    * Orotidylic decarboxylase deficiency
    * Orstavik Lindemann Solberg syndrome
    * Orthostatic intolerance
    * Oslam syndrome
    * Osler-rendu-weber syndrome 2
    * Osler-rendu-weber syndrome 3
    * OSMED Syndrome
    * Ossicular Malformations, familial
    * Ossification of the posterior longitudinal ligament of the spine
    * Osteoarthropathy of fingers familial
    * Osteochondritis deformans juvenile
    * Osteochondritis dissecans
    * Osteochondrodysplasia thrombocytopenia hydrocephalus
    * Osteochondroma
    * Osteochondromatosis
    * Osteodysplasia familial Anderson type
    * Osteodysplastic dwarfism Corsello type
    * Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
    * Osteoectasia familial
    * Osteogenesis imperfecta
    * Osteogenesis imperfecta congenita, microcephaly, and cataracts
    * Osteogenesis imperfecta, Levin type
    * Osteogenesis imperfecta, type 1
    * Osteogenesis imperfecta, type 1A
    * Osteogenesis imperfecta, type 2A
    * Osteogenesis imperfecta, type 2B
    * Osteogenesis imperfecta, type 3
    * Osteogenesis imperfecta, type 4
    * Osteogenesis imperfecta, type 5
    * Osteogenesis imperfecta, type 6
    * Osteogenesis imperfecta, type 7
    * Osteogenesis imperfecta, type VIII
    * Osteogenic sarcoma
    * Osteoglophonic dwarfism
    * Osteolysis hereditary multicentric
    * Osteolysis syndrome recessive
    * Osteomalacia
    * Osteomyelitis
    * Osteonecrosis
    * Osteopathia striata cranial sclerosis
    * Osteopathia striata with pigmentary dermopathy including white forelock
    * Osteopetrosis
    * Osteopetrosis and infantile neuroaxonal dystrophy
    * Osteopetrosis autosomal dominant type 1
    * Osteopetrosis lethal
    * Osteopetrosis with renal tubular acidosis
    * Osteopetrosis, mild autosomal recessive form
    * Osteopetrosis, renal tubular acidosis and basal ganglia calcification
    * Osteopoikilosis
    * Osteopoikilosis and dacryocystitis
    * Osteoporosis macrocephaly mental retardation blindness
    * Osteoporosis oculocutaneous hypopigmentation syndrome
    * Osteoporosis-pseudoglioma syndrome
    * Osteosarcoma limb anomalies erythroid macrocytosis
    * Osteosclerose type Stanescu
    * Osteosclerosis abnormalities of nervous system and meninges
    * Osteosclerosis autosomal dominant Worth type
    * Osteosclerosis with ichthyosis and premature ovarian failure
    * Ota Kawamura Ito syndrome
    * Otodental dysplasia
    * Otofaciocervical syndrome
    * Otoonychoperoneal syndrome
    * Oto-Palatal-digital syndrome
    * Oto-Palato-digital syndrome type 1
    * Oto-palato-digital syndrome, type 2
    * Otosclerosis
    * Otosclerosis, familial
    * Ouvrier Billson syndrome
    * Ovarian cancer
    * Ovarian carcinosarcoma
    * Ovarian dwarfism
    * Ovarian dwarfism as part of Turner Syndrome
    * Ovarian epithelial cancer
    * Ovarian germ cell tumor
    * Ovarian insufficiency due to FSH resistance
    * Ovarian insufficiency, familial
    * Ovarian low malignant potential tumor
    * Ovarian remnant syndrome
    * Overfolded helix
    * Overgrowth radial ray defect arthrogryposis
    * Overgrowth syndrome type Fryer
    * Overhydrated hereditary stomatocytosis
    * Oxalosis



    P



    * Pachydermoperiostosis
    * Pachygyria
    * Pachygyria with mental retardation and seizures
    * Pachygyria, frontotemporal
    * Pachyonychia congenita Jackson Lawler type
    * Pachyonychia congenita recessive
    * Pacman dysplasia
    * Paget disease extramammary
    * Pagets disease
    * Paget's disease of the breast
    * Paget's disease, type 1
    * Pagon Stephan syndrome
    * Paine syndrome
    * Palant cleft palate syndrome
    * Palindromic rheumatism
    * Pallidopyramidal syndrome
    * Pallister Killian syndrome
    * Pallister W syndrome
    * Pallister-Hall syndrome
    * Palmer Pagon syndrome
    * Palmoplantar Keratoderma
    * Palmoplantar keratoderma, epidermolytic
    * Pancreas agenesis, dorsal
    * Pancreatic adenoma
    * Pancreatic beta cell agenesis with neonatal diabetes mellitus
    * Pancreatic cancer, adult
    * Pancreatic carcinoma, familial
    * Pancreatic islet cell tumors
    * Pancreatic lipomatosis duodenal stenosis
    * Pancreatoblastoma
    * PANDAS
    * Panhypopituitarism
    * Panostotic fibrous dysplasia
    * Panuveitis
    * Papillary cystadenocarcinoma
    * Papillary renal cell carcinoma
    * Papilledema
    * Papillitis
    * Papilloma of choroid plexus
    * Papillomatosis, florid, of nipple
    * Papillorenal syndrome
    * Papular mucinosis
    * Papular urticaria
    * Paracoccidioidomycosis
    * Paraganglioma
    * Paragonimiasis
    * Parainfluenza virus type 3
    * Paramyotonia congenita
    * Paranasal sinus cancer, adult
    * Paraneoplastic cerebellar degeneration
    * Paraneoplastic Neurologic Disorders
    * Paraomphalocele
    * Paraplegia
    * Parapsoriasis
    * Paraquat lung
    * Parastremmatic dwarfism
    * Parathyroid cancer, adult
    * PARC syndrome
    * Parenchymatous cortical degeneration of cerebellum
    * Paris-Trousseau thrombocytopenia
    * Parkes Weber syndrome
    * Parkinson disease 3
    * Parkinson disease 9
    * Parkinson disease, juvenile, autosomal recessive
    * Parkinsonism, early onset with mental retardation
    * Paroxysmal cold hemoglobinuria
    * Paroxysmal kinesigenic choreoathetosis
    * Paroxysmal nocturnal hemoglobinuria
    * Paroxysmal nonkinesigenic dyskinesia
    * Paroxysmal ventricular fibrillation
    * Pars planitis
    * Parsonage Turner syndrome
    * Partial agenesis of corpus callosum
    * Partial atrioventricular canal
    * Partial deletion of Y
    * Partial lissencephaly
    * Partington Anderson syndrome
    * Partington X-linked mental retardation syndrome
    * Parvovirus antenatal infection
    * Pascual Castroviejo syndrome
    * Pashayan syndrome
    * Passos-Bueno syndrome
    * Pasteurella multocida
    * Patau syndrome
    * Patel Bixler syndrome
    * Patella aplasia, coxa vara, tarsal synostosis
    * Patella hypoplasia mental retardation
    * Patent ductus arteriosus
    * Patterned dystrophy of retinal pigment epithelium
    * Patterson pseudoleprechaunism syndrome
    * Patterson Stevenson syndrome
    * Pauciarticular chronic arthritis
    * Pavone Fiumara Rizzo syndrome
    * Pearson's marrow-pancreas syndrome
    * Pectus carinatum
    * Pediatric ulcerative colitis
    * Peeling skin syndrome, acral type
    * PEHO syndrome
    * Pelger-Huet anomaly
    * Pelizaeus-Merzbacher disease
    * Pelizaeus-Merzbacher like brain sclerosis
    * Pelizaeus-Merzbacher-like disease, autosomal recessive, 2
    * Pellagra
    * Pellagra like syndrome
    * Pelvic dysplasia arthrogryposis of lower limbs
    * Pelvic lipomatosis
    * Pelviscapular dysplasia
    * Pemphigus
    * Pemphigus and fogo selvagem
    * Pemphigus foliaceus
    * Pemphigus vulgaris
    * Pemphigus vulgaris, familial
    * Pena Shokeir syndrome Type 2
    * Pena Shokeir syndrome, type 1
    * Pendred syndrome
    * Penile cancer, adult
    * Penis agenesis
    * Penoscrotal transposition
    * Pentalogy of Cantrell
    * Pentosuria
    * Penttinen-Aula syndrome
    * PEPCK 1 deficiency
    * PEPCK 2 deficiency
    * Peptidic growth factors deficiency
    * Pericardium absent mental retardation short stature
    * Perilymphatic fistula
    * Perimyositis
    * Periodic fever, aphthous stomatitis, pharyngitis and adenitis
    * Periodic fever, familial, autosomal dominant
    * Peripartum cardiomyopathy
    * Peripheral neuroectodermal tumor
    * Peripheral T-cell lymphoma
    * Peripheral type neurofibromatosis
    * Perisylvian syndrome
    * Periventricular laminar heterotopia
    * Perniola Krajewska Carnevale syndrome
    * Perniosis
    * Peroxisomal ACYL-COA oxidase deficiency
    * Peroxisomal bifunctional enzyme deficiency
    * Peroxisomal defects
    * Peroxisome biogenesis disorders
    * Persistent Mullerian duct syndrome
    * Persistent parvovirus infection
    * Persistent truncus arteriosus
    * Peters anomaly
    * Peters anomaly with cataract
    * Peters congenital glaucoma
    * Petit Fryns syndrome
    * Petty Laxova Wiedemann syndrome
    * Peutz Jeghers syndrome
    * Peyronie disease
    * Pfeiffer Kapferer syndrome
    * Pfeiffer Mayer syndrome
    * Pfeiffer Palm Teller syndrome
    * Pfeiffer Rockelein syndrome
    * Pfeiffer syndrome
    * Pfeiffer Tietze Welte syndrome
    * PHACE association
    * Phacomatosis fourth
    * Phacomatosis pigmentokeratotica
    * Phacomatosis pigmentovascularis
    * Phenobarbital antenatal infection
    * Phenobarbital embryopathy
    * Phenol sulfotransferase deficiency
    * Phenothiazine antenatal infection
    * Phenylalaninemia
    * Phenylketonuria
    * Phenylketonuria type 2
    * Phenylketonuric embryopathy
    * Pheochromocytoma
    * Pheochromocytoma as part of Neurofibromatosis
    * Philadelphia-negative chronic myeloid leukemia
    * Phocomelia contractures absent thumb
    * Phocomelia ectrodactyly deafness sinus arrhythmia
    * Phocomelia syndrome
    * Phocomelia thrombocytopenia encephalocele
    * Phosphate diabetes
    * Phosphoglucomutase deficiency
    * Phosphoglucomutase deficiency type 1
    * Phosphoglucomutase deficiency type 2
    * Phosphoglucomutase deficiency type 3
    * Phosphoglucomutase deficiency type 4
    * Phosphoglycerate kinase 1 deficiency
    * Phosphoglycerate kinase deficiency
    * Phosphomannoisomerase deficiency
    * Phosphoribosylpyrophosphate synthetase deficiency
    * Photosensitive epilepsy
    * Phyllodes tumor of the prostate
    * Phytanic acid oxidase deficiency
    * PIBIDS syndrome
    * Picardi-Lassueur-Little syndrome
    * Pick disease of the brain
    * Piebaldism
    * Piepkorn Karp Hickok syndrome
    * Pierre Marie cerebellar ataxia
    * Pierre Robin sequence faciodigital anomaly
    * Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
    * Pierre Robin syndrome skeletal dysplasia polydactyly
    * Pierre Robin syndrome with fetal chondrodysplasia
    * Pierre Robin's sequence
    * Pierson syndrome
    * Pigmentary retinopathy
    * Pigment-dispersion syndrome
    * Pigmented purpuric eruption
    * Pigmented villonodular synovitis
    * Pili annulati
    * Pili multigemini
    * Pili torti
    * Pili torti developmental delay neurological abnormalities
    * Pili torti onychodysplasia
    * Pillay syndrome
    * Pilo dento ungular dysplasia microcephaly
    * Pilomatrixoma
    * Pilotto syndrome
    * Pineal Teratoma
    * Pinealoma
    * Pineoblastoma, adult
    * Pinheiro Freire-Maia Miranda syndrome
    * Pinta
    * Piriformis syndrome
    * Pitt Rogers Danks syndrome
    * Pitt-Hopkins syndrome
    * Pituitary dwarfism 1
    * Pituitary tumors, adult
    * Pityriasis lichenoides chronica
    * Pityriasis lichenoides et varioliformis acuta
    * Pityriasis rubra pilaris
    * Piussan Lenaerts Mathieu syndrome
    * Placenta disorder
    * Placenta neoplasm
    * Plagiocephaly
    * Plagiocephaly and X-linked mental retardation
    * Plague
    * Plasma cell leukemia
    * Plasma thromboplastin antecedent deficiency
    * Plasmacytoma anaplastic
    * Plasmalogens synthesis deficiency isolated
    * Plasminogen activitor inhibitor type 1 deficiency, congenital
    * Plasminogen deficiency, congenital
    * Platyspondylic lethal chondrodysplasia
    * Platyspondyly amelogenesis imperfecta
    * Pleomorphic malignant fibrous histiocytoma
    * Pleuropulmonary blastoma
    * Plexosarcoma
    * Plum syndrome
    * Plummer-Vinson syndrome
    * Pneumocystic carinii pneumonia
    * Pneumocystosis
    * Pneumonia, eosinophilic
    * Podder-Tolmie syndrome
    * POEMS syndrome
    * Poikiloderma of Kindler
    * Poikiloderma of Rothmund-Thomson
    * Poikilodermatomyositis mental retardation
    * Poikilodermia alopecia retrognathism cleft palate
    * Pointer syndrome
    * Poland syndrome
    * Poliomyelitis
    * Polyarteritis
    * Polyarteritis nodosa
    * Polyarthritis
    * Polyarthritis, systemic
    * Polychondritis
    * Polycystic bone disease
    * Polycystic kidney disease, autosomal recessive
    * Polycystic kidney disease, infantile type
    * Polycystic kidney disease, type 1
    * Polycystic kidney disease, type 2
    * Polycystic kidneys, severe infantile with tuberous sclerosis
    * Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
    * Polycystic liver disease
    * Polycystic ovarian disease, familial
    * Polycystic ovaries urethral sphincter dysfunction
    * Polycythemia vera
    * Polydactyly
    * Polydactyly alopecia seborrheic dermatitis
    * Polydactyly cleft lip palate psychomotor retardation
    * Polydactyly myopia syndrome
    * Polydactyly postaxial
    * Polydactyly postaxial dental and vertebral
    * Polydactyly postaxial with median cleft of upper lip
    * Polydactyly preaxial type 1
    * Polydactyly syndrome middle ray duplication
    * Polydactyly visceral anomalies cleft lip palate
    * Polydactyly, preaxial 4
    * Polyembryoma
    * Polyglucosan body disease, adult
    * Polymicrogyria turricephaly hypogenitalism
    * Polymorphic catecholergic ventricular tachycardia
    * Polymorphic macular degeneration
    * Polymorphic reticulosis
    * Polymorphous low-grade adenocarcinoma
    * Polymyositis
    * Polyneuritis
    * Polyneuropathy hand defect
    * Polyneuropathy mental retardation acromicria prema
    * Polyomavirus allograft nephropathy
    * Polyomavirus Infections
    * Polyostotic osteolytic dysplasia, hereditary expansile
    * Polyposis skin pigmentation alopecia fingernail changes
    * Polysyndactyly cardiac malformation
    * Polysyndactyly microcephaly ptosis
    * Polysyndactyly orofacial anomalies
    * Polysyndactyly overgrowth syndrome
    * Polysyndactyly trigonocephaly agenesis of corpus callosum
    * Polysyndactyly type 4
    * Polysyndactyly type Haas
    * Poncet-Spiegler's cylindroma
    * Pontoneocerebellar Hypoplasia
    * Popliteal pterygium syndrome
    * Popliteal pterygium syndrome lethal type
    * Porencephaly
    * Porencephaly cerebellar hypoplasia malformations
    * Porokeratosis of Mibelli
    * Porokeratosis plantaris palmaris et disseminata
    * Porokeratosis punctata palmaris et plantaris
    * Porokeratosis, disseminated superficial actinic 1
    * Porokeratosis, disseminated superficial actinic 2
    * Porphyria cutanea tarda
    * Porphyria, Ala-D
    * Porphyria, Chester type
    * Porphyria, congenital erythropoietic
    * Portal hypertension
    * Portal hypertension due to infrahepatic block
    * Portal thrombosis
    * Portal vein thrombosis
    * Portuguese type amyloidosis
    * Positive rheumatoid factor polyarthritis
    * Post Polio syndrome
    * Postaxial polydactyly mental retardation
    * Posterior column ataxia
    * Posterior column ataxia with retinitis pigmentosa
    * Posterior tibial tendon rupture
    * Posterior urethral valves
    * Posterior valve urethra
    * Post-infectious myocarditis
    * Post-infectious reactive arthropathy
    * Post-Streptococcal Neurologic Disorders
    * Post-transplant lymphoproliferative disease
    * Post-traumatic epilepsy
    * Postural hypotension
    * Postural orthostatic tachycardia syndrome
    * Potassium aggravated myotonia
    * Potato nose
    * Potocki-Lupski syndrome
    * Potocki-Shaffer syndrome
    * Potter disease type 1
    * Potter disease, type 3
    * Potter sequence cleft cardiopathy
    * Potter syndrome dominant type
    * Powell Buist Stenzel syndrome
    * Powell Chandra Saal syndrome
    * Powell Venencie Gordon syndrome
    * Poxviridae disease
    * Prader-Willi habitus, osteopenia, and camptodactyly
    * Prader-Willi syndrome
    * Prata Libéral Gonçalves syndrome
    * Preaxial deficiency, postaxial polydactyly and hypospadias
    * Preaxial polydactyly colobomata mental retardation
    * Precocious epileptic encephalopathy
    * Precocious myoclonic encephalopathy
    * Precocious puberty
    * Precocious puberty, gonadotropin-dependent
    * Preeclampsia
    * Preeyasombat Varavithya syndrome
    * Prekallikrein deficiency, congenital
    * Premature aging
    * Premature aging, Okamoto type
    * Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an
    * Premature ovarian failure, familial
    * Presbycusis
    * Presenile dementia, Kraepelin type
    * Priapism
    * Prieto X-linked mental retardation syndrome
    * Primary agammaglobulinemia
    * Primary aldosteronism
    * Primary amebic meningoencephalitis
    * Primary angiitis of the central nervous system
    * Primary biliary cirrhosis
    * Primary ciliary dyskinesia
    * Primary ciliary dyskinesia, 2
    * Primary ciliary dyskinesia, 3
    * Primary ciliary dyskinesia, 4
    * Primary cortisol resistance
    * Primary craniosynostosis
    * Primary cutaneous amyloidosis
    * Primary effusion lymphoma
    * Primary familial xanthomatosis with involvement and calcification of the adrenal galnds
    * Primary granulocytic sarcoma
    * Primary hyperoxaluria type 1
    * Primary hyperoxaluria type 2
    * Primary immunodeficiency disorders
    * Primary lateral sclerosis juvenile
    * Primary malignant lymphoma
    * Primary malignant melanoma of the cervix
    * Primary open angle glaucoma juvenile onset 1
    * Primary orthostatic tremor
    * Primary progressive aphasia
    * Primary sclerosing cholangitis
    * Primary tubular proximal acidosis
    * Primordial microcephalic dwarfism Crachami type
    * Primrose syndrome
    * Prinzmetal's variant angina
    * Procarcinoma
    * Proconvertin deficiency, congenital
    * Proctitis
    * Progeria short stature pigmented nevi
    * Progeria variant syndrome Ruvalcaba type
    * Progeroid syndrome De Barsy type
    * Progeroid syndrome Petty type
    * Progeroid syndrome, neonatal
    * Progeroid syndrome, Penttinen type
    * Prognathism dominant
    * Progressive acromelanosis
    * Progressive black carbon hyperpigmentation of infancy
    * Progressive external ophthalmoplegia
    * Progressive hearing loss stapes fixation
    * Progressive hemifacial atrophy
    * Progressive kinking of the hair, acquired
    * Progressive multifocal leukoencephalopathy
    * Progressive myositis ossificans
    * Progressive osseous heteroplasia
    * Progressive spinal muscular atrophy
    * Progressive supranuclear palsy
    * Progressive supranuclear palsy atypical
    * Prolactinoma, familial
    * Prolerating trichilemmal cyst
    * Prolidase deficiency
    * Prolymphocytic leukemia
    * Properdin deficiency
    * Properdin deficiency, X-linked
    * Prosencephaly cerebellar dysgenesis
    * Prosopagnosia, hereditary
    * Prostate cancer, familial
    * Prostatic malacoplakia associated with prostatic abscess
    * Prostatic stromal proliferation of uncertain malignant potential
    * Protein R deficiency
    * Protein S acquired deficiency
    * Protein S deficiency
    * Proteus like syndrome mental retardation eye defect
    * Proteus syndrome
    * Prothrombin deficiency
    * Protoporphyria
    * Proud Levine Carpenter syndrome
    * Proximal spinal muscular atrophy
    * Prune belly syndrome
    * Prurigo nodularis
    * Pruritic urticarial papules plaques of pregnancy
    * Pseudoachondroplasia
    * Pseudoachondroplastic dysplasia 2
    * Pseudoainhum
    * Pseudoaldosteronism
    * Pseudoaminopterin syndrome
    * Pseudoangiomatous stromal hyperplasia
    * Pseudoarylsulfatase A deficiency
    * Pseudocholinesterase deficiency
    * Pseudodiastrophic dysplasia
    * Pseudohermaphrodism anorectal anomalies
    * Pseudohermaphroditism
    * Pseudohermaphroditism female skeletal anomalies
    * Pseudohermaphroditism male with gynecomastia
    * Pseudohyperkalemia Cardiff
    * Pseudohypoaldosteronism type 1, autosomal dominant
    * Pseudohypoaldosteronism type 1, autosomal recessive
    * Pseudohypoaldosteronism type 2
    * Pseudohypoparathyroidism
    * Pseudoinflammatory fundus dystrophy
    * Pseudomarfanism
    * Pseudomonas stutzeri infections
    * Pseudomongolism
    * Pseudomyotonia
    * Pseudomyxoma peritonei
    * Pseudoobstruction idiopathic intestinal
    * Pseudopapilledema blepharophimosis hand anomalies
    * Pseudo-Pelade of Brocq
    * Pseudopolycythaemia
    * Pseudoprogeria syndrome
    * Pseudotrisomy 13 syndrome
    * Pseudotumor cerebri
    * Pseudo-Turner syndrome
    * Pseudovaginal perineoscrotal hypospadias
    * Pseudoxanthoma elasticum
    * Pseudoxanthoma elasticum, dominant form
    * Pseudoxanthoma elasticum, forme fruste
    * Pseudoxanthoma elasticum, recessive form
    * Pseudo-Zellweger syndrome
    * Psittacosis
    * Pterigium Colli
    * Pterygia mental retardation facial dysmorphism
    * Pterygium colli mental retardation digital anomalies
    * Pterygium of the conjunctiva
    * Pterygium syndrome antecubital
    * Pterygium syndrome multiple dominant type
    * Pterygium syndrome X-linked
    * Ptosis coloboma mental retardation
    * Ptosis coloboma trigonocephaly
    * Ptosis strabismus diastasis
    * Ptosis strabismus ectopic pupils
    * Pulmonar arterioveinous aneurysm
    * Pulmonary alveolar proteinosis
    * Pulmonary alveolar proteinosis, congenital
    * Pulmonary arterio-veinous fistula
    * Pulmonary arteriovenous malformation
    * Pulmonary artery agenesis
    * Pulmonary artery coming from the aorta
    * Pulmonary artery familial dilatation
    * Pulmonary artery, isolated unilateral absence of (Isolated UAPA)
    * Pulmonary artery, unilateral absence of (UAPA)
    * Pulmonary atresia with ventricular septal defect
    * Pulmonary branches stenosis
    * Pulmonary cystic lymphangiectasis
    * Pulmonary edema of mountaineers
    * Pulmonary fibrosis /granuloma
    * Pulmonary hypoplasia familial primary
    * Pulmonary sequestration
    * Pulmonary supravalvular stenosis
    * Pulmonary surfactant protein B, deficiency of
    * Pulmonary valve stenosis
    * Pulmonary valves agenesis
    * Pulmonary veins stenosis
    * Pulmonary venoocclusive disease
    * Pulmonary veno-occlusive disease
    * Pulmonary venous return anomaly
    * Pulmonaryatresia intact ventricular septum
    * Pulmonic stenosis
    * Punctate acrokeratoderma freckle like pigmentation
    * Punctate inner choroidopathy
    * Pure red cell aplasia
    * Puretic syndrome
    * Purine nucleoside phosphorylase deficiency
    * Purpura simplex
    * Purtilo syndrome
    * Pycnodysostosis
    * Pyknoachondrogenesis
    * Pyle disease
    * Pyoderma gangrenosum
    * Pyogenic arthritis, pyoderma gangrenosum, and acne
    * Pyomyositis
    * Pyridoxine deficiency
    * Pyridoxine-dependent epilepsy
    * Pyrimidinemia familial
    * Pyropoikilocytosis
    * Pyrosis
    * Pyruvate carboxylase deficiency
    * Pyruvate decarboxylase deficiency
    * Pyruvate dehydrogenase deficiency
    * Pyruvate dehydrogenase phosphatase deficiency
    * Pyruvate kinase deficiency
    * Pyruvate kinase deficiency, liver type
    * Pyruvate kinase deficiency, muscle type

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    Q


    * Q fever
    * Qazi Markouizos syndrome
    * Quebec platelet disorder
    * Quinquaud's decalvans folliculitis



    R


    * Rabies
    * Rabson-Mendenhall syndrome
    * Radial defect Robin sequence
    * Radial hypoplasia, triphalangeal thumbs and hypospadias
    * Radial ray hypoplasia choanal atresia
    * Radiation induced angiosarcoma of the breast
    * Radiation induced brachial plexopathy
    * Radiation induced meningioma
    * Radiation related neoplasm
    * Radio digito facial dysplasia
    * Radio renal syndrome
    * Radioulnar synostosis retinal pigment abnormalities
    * Radio-ulnar synostosis type 1
    * Radio-ulnar synostosis type 2
    * Radius absent anogenital anomalies
    * Raine syndrome
    * Rambaud Galian syndrome
    * Ramer Ladda syndrome
    * Ramon Syndrome
    * Ramos Arroyo Clark syndrome
    * Ramsay Hunt syndrome
    * Rapadilino syndrome
    * Rapp-Hodgkin syndrome
    * Rasmussen encephalitis
    * Rasmussen Johnsen Thomsen syndrome
    * Rasmussen subacute encephalitis
    * Rat bite fever
    * Ray Peterson Scott syndrome
    * Reactive angioendotheliomatosis
    * Reactive attachment disorder of early childhood
    * Reactive attachment disorder of infancy
    * Reardon Hall Slaney syndrome
    * Reardon Wilson Cavanagh syndrome
    * Recombinant chromosome 8 syndrome
    * Rectal cancer
    * Rectal neoplasm
    * Rectosigmoid neoplasm
    * Recurrent peripheral facial palsy
    * Recurrent respiratory papillomatosis
    * Red cell phospholipid defect with hemolysis
    * Red skin pigment anomaly of New Guinea
    * Reductional transverse limb defects
    * Reed's syndrome
    * Reflex sympathetic dystrophy syndrome
    * Refractory anemia
    * Refsum disease
    * Refsum disease with increased pipecolic acidemia
    * Refsum disease, infantile form
    * Reginato Shiapachasse syndrome
    * Reiter's Syndrome
    * Renal adysplasia dominant type
    * Renal agenesis meningomyelocele mullerian defect
    * Renal agenesis, bilateral
    * Renal artery stenosis
    * Renal caliceal diverticuli deafness
    * Renal cancer
    * Renal carcinoma, familial
    * Renal cell carcinoma 4
    * Renal cysts and diabetes syndrome
    * Renal dysplasia - limb defects syndrome
    * Renal dysplasia diffuse autosomal recessive
    * Renal dysplasia diffuse cystic
    * Renal dysplasia limb defects
    * Renal dysplasia megalocystis sirenomelia
    * Renal dysplasia mesomelia radiohumeral fusion
    * Renal genital middle ear anomalies
    * Renal glycosuria
    * Renal hepatic pancreatic dysplasia Dandy Walker cyst
    * Renal hypouricemia
    * Renal osteodystrophy
    * Renal pelvis and ureter, transitional cell cancer
    * Renal rickets
    * Renal tubular acidosis
    * Renal tubular acidosis progressive nerve deafness
    * Renal tubular acidosis, distal
    * Renal tubular acidosis, distal, autosomal dominant
    * Renal tubular acidosis, distal, autosomal recessive
    * Renal tubular acidosis, distal, type 3
    * Renal tubular acidosis, distal, type 4
    * Renal tubular transport disorders inborn
    * Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna
    * Renier Gabreels Jasper syndrome
    * Renoanogenital syndrome
    * Renoprival hypertension
    * Renpenning syndrome 1
    * Resistance to LH (luteinizing hormone)
    * Resistance to thyroid stimulating hormone
    * Respiratory chain deficiency malformations
    * Respiratory distress syndrome, infant
    * Restless legs syndrome 2
    * Reticular dysgenesis
    * Reticuloendotheliosis
    * Retinal cone dystrophy 2
    * Retinal degeneration
    * Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
    * Retinal dysplasia X-linked
    * Retinal telangiectasia hypogammaglobulinemia
    * Retinis pigmentosa deafness hypogenitalism
    * Retinitis pigmentosa 1
    * Retinitis pigmentosa mental retardation deafness
    * Retinitis pigmentosa-deafness syndrome
    * Retinoblastoma
    * Retinohepatoendocrinologic syndrome
    * Retinopathy anemia CNS anomalies
    * Retinopathy aplastic anemia neurological abnormalities
    * Retinopathy of prematurity
    * Retinopathy pigmentary mental retardation
    * Retinopathy, arteriosclerotic
    * Retinoschisis
    * Retinoschisis autosomal dominant
    * Retinoschisis of Fovea
    * Retroperitoneal fibrosis
    * Retroperitoneal liposarcoma
    * Rett like syndrome
    * Rett syndrome
    * Revesz Debuse syndrome
    * Reye syndrome
    * Reynolds Neri Hermann syndrome
    * Reynolds syndrome
    * Rhabditida Infections
    * Rhabdoid tumor
    * Rhabdomyomatous dysplasia cardiopathy genital anomalies
    * Rhabdomyosarcoma 1
    * Rhabdomyosarcoma 2
    * Rhabdomyosarcoma of the orbit
    * Rhabdomyosarcoma, embryonal
    * Rheumatic Fever
    * Rheumatoid nodulosis
    * Rheumatoid vasculitis
    * Rhizomelic chondrodysplasia punctata, type 2
    * Rhizomelic chondrodysplasia punctata, type 3
    * Rhizomelic dysplasia Patterson Lowry type
    * Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
    * Rhizomelic pseudopolyarthritis
    * Rhizomelic syndrome
    * RHYNS syndrome
    * Ribbing disease
    * Richards-Rundle syndrome
    * Richieri Costa Da Silva syndrome
    * Richieri Costa Guion Almeida Rodini syndrome
    * Richieri Costa Guion-Almeida syndrome
    * Richieri Costa Orquizas syndrome
    * Richieri Costa Pereira syndrome
    * Richieri-Costa Colletto Otto syndrome
    * Richieri-Costa Guion-Almeida Cohen syndrome
    * Richter syndrome
    * Rickets
    * Rickettsial disease
    * Rickettsiosis
    * Rieger syndrome
    * Rieger syndrome 2
    * Right atrium familial dilatation
    * Right pulmonary artery, anomalous origin of, familial
    * Right ventricle hypoplasia
    * Rigid spine syndrome
    * Ring dermoid of cornea
    * Ringed hair disease
    * Rippling muscle disease
    * Rippling muscle disease, 1
    * Roberts Syndrome
    * Robin sequence and oligodactyly
    * Robinow Sorauf syndrome
    * Robinow syndrome, autosomal recessive
    * Robinson Miller Bensimon syndrome
    * Roch-Leri mesosomatous lipomatosis
    * Rocky Mountain spotted fever
    * Rod myopathy
    * Rodini Richieri Costa syndrome
    * Rodrigues blindness
    * Roifman syndrome
    * Rokitansky Kuster Hauser syndrome
    * Rokitansky sequence
    * Rokitansky-Aschoff sinuses of the gallbladder
    * Rombo syndrome
    * Rommen Mueller Sybert syndrome
    * Rosai-Dorfman disease
    * Rosenberg Chutorian syndrome
    * Rotor syndrome
    * Roussy Levy hereditary areflexic dystasia
    * Rowley-Rosenberg syndrome
    * Roy Maroteaux Kremp syndrome
    * Rozin Hertz Goodman syndrome
    * Rubella
    * Rubella virus antenatal infection
    * Rubella, congenital
    * Rubinstein Taybi like syndrome
    * Rubinstein-Taybi syndrome
    * Rud Syndrome
    * Rudd Klimek syndrome
    * Rufous oculocutaneous albinism
    * Rumination disorder
    * Ruvalcaba Churesigaew Myhre syndrome
    * Ruvalcaba syndrome
    * Ruzicka Goerz Anton syndrome




    S


    * Saal Bulas syndrome
    * Sabinas brittle hair syndrome
    * Saccharopinuria
    * Sackey Sakati Aur syndrome
    * Sacral agenesis
    * Sacral defect and anterior sacral meningocele
    * Sacral hemangiomas multiple congenital abnormalities
    * Sacral meningocele conotruncal heart defects
    * Sacral plexopathy
    * Sacrococcygeal dysgenesis association
    * Saethre-Chotzen syndrome
    * Saito Kuba Tsuruta syndrome
    * Sakati syndrome
    * Salcedo syndrome
    * Salivary gland cancer, adult
    * Salla disease
    * Sallis Beighton syndrome
    * Sammartino Decreccio syndrome
    * Samson Gardner syndrome
    * Samson Viljoen syndrome
    * Sanderson Fraser syndrome
    * Sandhaus Ben-Ami syndrome
    * Sandhoff disease
    * Sandifer syndrome
    * Sanfilippo syndrome
    * Santos Mateus Leal syndrome
    * SAPHO syndrome
    * Sarcoidosis
    * Sarcoidosis, pulmonary
    * Sarcoma botryoides
    * Sarcosinemia
    * SARS
    * Satoyoshi syndrome
    * Saul Wilkes Stevenson syndrome
    * Say Barber Miller syndrome
    * Say Carpenter syndrome
    * Say Field Coldwell syndrome
    * Say Meyer syndrome
    * Say syndrome
    * Scalp defects postaxial polydactyly
    * Scalp ear nipple syndrome
    * Scaphotrapeziotrapezoid arthrodesis
    * Scapuloperoneal myopathy
    * SCARF syndrome
    * Schaap Taylor Baraitser syndrome
    * Schaefer Stein Oshman syndrome
    * Scheurermann's disease
    * Schimke immunoosseous dysplasia
    * Schimke X-linked mental retardation syndrome
    * Schindler disease, type 1
    * Schinzel Giedion syndrome
    * Schisis association
    * Schistosomiasis
    * Schizencephaly
    * Schizophrenia mental retardation deafness retinitis
    * Schizotaxia
    * Schlegelberger Grote syndrome
    * Schmidt syndrome
    * Schmitt Gillenwater Kelly syndrome
    * Schneckenbecken dysplasia
    * Scholte syndrome
    * Schrander-Stumpel Theunissen Hulsmans syndrome
    * Schroer Hammer Mauldin syndrome
    * Schwannoma, malignant
    * Schwannomatosis
    * Schwartz Cohen-Addad Lambert syndrome
    * Schwartz Jampel syndrome
    * Schwartz-Lelek syndrome
    * Scleredema
    * Scleroatonic muscular dystrophy
    * Sclerocornea, Syndactyly, ambiguous genitalia
    * Scleroderma, diffuse
    * Scleroderma, linear
    * Scleromyxedema
    * Sclerosing bone dysplasia mental retardation
    * Sclerosing lymphocytic lobulitis
    * Sclerosing Mesenteritis
    * Sclerosteosis
    * Sclerotylosis
    * Scoliosis as part of NF
    * Scoliosis with unilateral unsegmented bar
    * SCOT deficiency
    * Scott Bryant Graham syndrome
    * Scott syndrome
    * Sea-Blue histiocytosis
    * Seaver Cassidy syndrome
    * Sebaceous gland hyperplasia, familial presenile
    * Sebastian syndrome
    * Sebocystomatosis
    * Secernentea Infections
    * Seckel like syndrome Majoor Krakauer type
    * Seckel like syndrome type Buebel
    * Seckel syndrome 1
    * Seckel syndrome 2
    * Secondary pulmonary hypertension
    * Secretory breast carcinoma
    * Seemanova Lesny syndrome
    * Segawa syndrome, autosomal recessive
    * Seghers syndrome
    * Segmental vertebral anomalies
    * Segmentation syndrome 1
    * Seizures benign familial neonatal recessive form
    * Seizures mental retardation hair dysplasia
    * Selenium poisoning
    * Selig Benacerraf Greene syndrome
    * Seminoma
    * Semmerkrot Haraldsson Weenaes syndrome
    * Sener syndrome
    * Sengers Hamel Otten syndrome
    * Senior Loken Syndrome
    * Senior syndrome
    * Senior-Loken syndrome 4
    * Sennetsu Fever
    * Sensorineural hearing loss
    * Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
    * Sensory neuropathy type 1
    * Senter syndrome
    * Seow Najjar syndrome
    * Septo-optic dysplasia
    * Septooptic dysplasia digital anomalies
    * Sequeiros Sack syndrome
    * Seres-Santamaria Arimany Muniz syndrome
    * Serious digitalis intoxication
    * Serpentine fibula polycystic kidney syndrome
    * Sertoli cell-only syndrome, Y-linked
    * Sertoli-leydig cell tumors
    * Severe achondroplasia with developmental delay and acanthosis nigricans
    * Severe combined immunodeficiency
    * Severe combined immunodeficiency with sensitivity to ionizing radiation
    * Severe combined immunodeficiency, atypical
    * Severe combined immunodeficiency, X-linked
    * Severe congenital neutropenia
    * Severe infantile axonal neuropathy
    * Severe mental retardation and absent nails of hallux and pollex
    * Sezary syndrome
    * Shapiro syndrome
    * Sharma Kapoor Ramji syndrome
    * Sharp syndrome
    * Shaver's disease
    * Sheehan syndrome
    * Shigellosis
    * Shith Filkins syndrome
    * Short broad great toe macrocranium
    * Short chain Acyl CoA dehydrogenase deficiency
    * Short limb dwarf edema iris coloboma
    * Short limb dwarf lethal Colavita Kozlowski type
    * Short limb dwarf lethal Mcalister Crane type
    * Short limb dwarfism Al Gazali type
    * Short limbs abnormal face congenital heart disease
    * Short limbs subluxed knees cleft palate
    * Short rib-polydactyly syndrome
    * Short rib-polydactyly syndrome, Beemer type
    * Short rib-polydactyly syndrome, Majewski type
    * Short rib-polydactyly syndrome, Saldino-Noonan type
    * Short rib-polydactyly syndrome, Verma-Naumoff type
    * Short ribs craniosynostosis polysyndactyly
    * Short stature abnormal skin pigmentation mental retardation
    * Short stature and locking fingers
    * Short stature contractures hypotonia
    * Short stature cranial hyperostosis hepatomegaly
    * Short stature deafness neutrophil dysfunction
    * Short stature dysmorphic face pelvic scapula dysplasia
    * Short stature hyperkaliemia acidosis
    * Short stature mental retardation eye anomalies
    * Short stature mental retardation eye defects
    * Short stature microcephaly seizures deafness
    * Short stature monodactylous ectrodactyly cleft palate
    * Short stature prognathism short femoral necks
    * Short stature Robin sequence cleft mandible hand anomalies clubfoot
    * Short stature syndrome, Brussels type
    * Short stature talipes natal teeth
    * Short stature valvular heart disease
    * Short stature webbed neck heart disease
    * Short stature wormian bones dextrocardia
    * Short stature, cranial hyperostosis, hepatomegaly and diabetes
    * SHORT syndrome
    * Short tarsus absence of lower eyelashes
    * Shoulder and thorax deformity congenital heart disease
    * Shoulder girdle defect mental retardation familial
    * Shprintzen Golberg craniosynostosis
    * Shprintzen omphalocele syndrome
    * Shprintzen omphalocele syndrome
    * Shwachman syndrome
    * Shwachman-Diamond syndrome
    * Shwartzman phenomenon
    * Sialadenitis
    * Sialidosis
    * Sialidosis type 1 and 3
    * Sialuria, French type
    * Sickle cell anemia
    * Sickle cell crisis
    * Siderius X-linked mental retardation syndrome
    * Sideroblastic anemia, autosomal
    * Siderosis
    * Siegler Brewer Carey syndrome
    * Silengo Lerone Pelizza syndrome
    * Silicosiderosis
    * Silicosis
    * Sillence syndrome
    * Silver-Russell dwarfism
    * Silvery hair syndrome
    * Simian B virus infection
    * Simosa cranio facial syndrome
    * Simpson-Golabi-Behmel syndrome
    * Sine scleroderma
    * Singh Chhaparwal Dhanda syndrome
    * Single upper central incisor
    * Single ventricular heart
    * Singleton Merten syndrome
    * Sino-auricular heart block
    * Sinonasal undifferentiated carcinoma
    * Sinus cancer
    * Sinus histiocytosis
    * Sinus node disease and myopia
    * Sirenomelia
    * Sitosterolemia
    * Situs inversus totalis with cystic dysplasia of kidneys and pancreas
    * Situs inversus viscerum
    * Situs inversus, X-linked
    * Sixth nerve palsy
    * Sjogren-Larsson syndrome
    * Sjogren-Larsson-like syndrome
    * Sjögren-Mikulicz syndrome
    * Sjogren's syndrome, juvenile, secondary to autoimmune disease
    * Skeletal dysplasia brachydactyly
    * Skeletal dysplasia orofacial anomalies
    * Skeletal dysplasia, San Diego type
    * Skeletal dysplasias
    * Skeleto cardiac syndrome with thrombocytopenia
    * Sketetal dysplasia coarse facies mental retardation
    * Slavotinek Pike Mills Hurst syndrome
    * Slti Salem syndrome
    * Sly syndrome
    * Small cell lung cancer, adult
    * Small intestine cancer, adult
    * Small non-cleaved cell lymphoma
    * Smith Lemli Opitz syndrome, type 1
    * Smith Martin Dodd syndrome
    * Smith-Lemli-Opitz syndrome, type 2
    * Smith-Magenis Syndrome
    * Sneddon Syndrome
    * Snowflake vitreoretinal degeneration
    * Snyder Robinson syndrome
    * Soft tissue sarcomas
    * Sohval Soffer syndrome
    * Somatostatinoma
    * Sommer Hines syndrome
    * Sommer Rathbun Battles syndrome
    * Sommer Young Wee Frye syndrome
    * Sondheimer syndrome
    * Sonoda syndrome
    * Sosby syndrome
    * Sotos syndrome
    * Southwestern Athabaskan genetic diseases
    * Sparse hair ptosis mental retardation
    * Spasmodic dysphonia
    * Spastic angina with healthy coronary artery
    * Spastic ataxia Charlevoix-Saguenay type
    * Spastic diplegia infantile type
    * Spastic dysphonia
    * Spastic paraparesis
    * Spastic paraparesis deafness
    * Spastic paraplegia 10, autosomal dominant
    * Spastic paraplegia 11, autosomal recessive
    * Spastic paraplegia 12, autosomal dominant
    * Spastic paraplegia 13, autosomal dominant
    * Spastic paraplegia 14, autosomal recessive
    * Spastic paraplegia 15, autosomal recessive
    * Spastic paraplegia 16, X-linked
    * Spastic paraplegia 17
    * Spastic paraplegia 19, autosomal dominant
    * Spastic paraplegia 2, X-linked
    * Spastic paraplegia 20, autosomal recessive
    * Spastic paraplegia 23
    * Spastic paraplegia 24
    * Spastic paraplegia 25, autosomal recessive
    * Spastic paraplegia 26, autosomal recessive
    * Spastic paraplegia 29, autosomal dominant
    * Spastic paraplegia 3, autosomal dominant
    * Spastic paraplegia 4, autosomal dominant
    * Spastic paraplegia 6, autosomal dominant
    * Spastic paraplegia 8, autosomal dominant
    * Spastic paraplegia 9, autosomal dominant
    * Spastic paraplegia epilepsy mental retardation
    * Spastic paraplegia nephritis deafness
    * Spastic paraplegia neuropathy poikiloderma
    * Spastic paraplegia type 1, X-linked
    * Spastic paraplegia type 5A, recessive
    * Spastic paraplegia type 5B, recessive
    * Spastic paraplegia with Kallmann syndrome
    * Spastic paraplegia with precocious puberty
    * Spastic paraplegia, familial
    * Spastic paresis glaucoma mental retardation
    * Spastic quadriplegia retinitis pigmentosa mental retardation
    * Spastic tetraplegic cerebral palsy
    * Spasticity mental retardation
    * Spasticity multiple exostoses
    * Spellacy gibbs watts syndrome
    * Spermatogenesis arrest
    * Spherocytosis
    * Spheroid body myopathy
    * Spherophakia brachymorphia syndrome
    * Sphingolipidosis
    * Spiegler-Brooke syndrome
    * Spielmeyer-Vogt disease
    * Spina bifida
    * Spina bifida hypospadias
    * Spinal atrophy ophthalmoplegia pyramidal syndrome
    * Spinal bulbar motor neuropathy
    * Spinal bulbar muscular atrophy
    * Spinal cord neoplasm
    * Spinal dysostosis type Anhalt
    * Spinal intradural arachnoid cysts
    * Spinal muscular atrophy
    * Spinal muscular atrophy type 2
    * Spinal muscular atrophy type I with congenital bone fractures
    * Spinal muscular atrophy with respiratory distress 1
    * Spinal muscular atrophy, Ryukyuan type
    * Spinal muscular atrophy, type 3
    * Spinal shock
    * Spine rigid cardiomyopathy
    * Spinocerebellar ataxia 1
    * Spinocerebellar ataxia 13
    * Spinocerebellar ataxia 14
    * Spinocerebellar ataxia 18
    * Spinocerebellar ataxia 19
    * Spinocerebellar ataxia 2
    * Spinocerebellar ataxia 20
    * Spinocerebellar ataxia 21
    * Spinocerebellar ataxia 23
    * Spinocerebellar ataxia 25
    * Spinocerebellar ataxia 26
    * Spinocerebellar ataxia 27
    * Spinocerebellar ataxia 28
    * Spinocerebellar ataxia 3
    * Spinocerebellar ataxia 30
    * Spinocerebellar ataxia 4
    * Spinocerebellar ataxia 5
    * Spinocerebellar ataxia 7
    * Spinocerebellar ataxia 8
    * Spinocerebellar ataxia amyotrophy deafness
    * Spinocerebellar ataxia dysmorphism
    * Spinocerebellar ataxia, autosomal recessive 1
    * Spinocerebellar ataxia, autosomal recessive 3
    * Spinocerebellar ataxia, autosomal recessive 4
    * Spinocerebellar ataxia, autosomal recessive 5
    * Spinocerebellar ataxia, autosomal recessive 6
    * Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
    * Spinocerebellar ataxia, X-linked, 2
    * Spinocerebellar ataxia, X-linked, 3
    * Spinocerebellar ataxia, X-linked, 4
    * Spinocerebellar degeneration corneal dystrophy
    * Spinocerebellar degenerescence book type
    * Spirochetes disease
    * Spirurida Infections
    * Spleen neoplasm
    * Splenic agenesis syndrome
    * Splenic infarcts
    * Splenogonadal fusion limb defects micrognatia
    * Splenomegaly
    * Split hand split foot malformation autosomal recessive
    * Split hand split foot mandibular hypoplasia
    * Split hand split foot nystagmus
    * Split hand urinary anomalies spina bifida
    * Split hand/foot malformation X-linked
    * Split-hand deformity
    * Spondylarthritis
    * Spondylarthropathies
    * Spondylarthropathy
    * Spondylitis
    * Spondylo costal dysostosis dandy walker
    * Spondylocamptodactyly
    * Spondylocarpotarsal synostosis
    * Spondylocostal dysostosis, autosomal recessive
    * Spondylocostal dysplasia dominant
    * Spondyloenchondrodysplasia
    * Spondyloepimetaphyseal dysplasia
    * Spondyloepimetaphyseal dysplasia congenita, Iraqi
    * Spondyloepimetaphyseal dysplasia joint laxity
    * Spondyloepimetaphyseal dysplasia with hypotrichosis
    * Spondyloepimetaphyseal dysplasia with multiple dislocations
    * Spondyloepimetaphyseal dysplasia, Genevieve type
    * Spondyloepimetaphyseal dysplasia, sponastrime type
    * Spondyloepiphyseal dysplasia
    * Spondyloepiphyseal dysplasia nephrotic syndrome
    * Spondyloepiphyseal dysplasia tarda
    * Spondyloepiphyseal dysplasia tarda progressive art
    * Spondyloepiphyseal dysplasia tarda, Toledo type
    * Spondyloepiphyseal dysplasia, congenita
    * Spondyloepiphyseal dysplasia, Omani type
    * Spondylohypoplasia, arthrogryposis and popliteal pterygium
    * Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
    * Spondylometaphyseal dysplasia with dentinogenesis imperfecta
    * Spondylometaphyseal dysplasia, Algerian type
    * Spondylometaphyseal dysplasia, axial
    * Spondylometaphyseal dysplasia, 'corner fracture' type
    * Spondylometaphyseal dysplasia, east-African type
    * Spondylometaphyseal dysplasia, Kozlowski type
    * Spondylometaphyseal dysplasia, Sedaghatian type
    * Spondylometaphyseal dysplasia, X-linked
    * Spondyloperipheral dysplasia short ulna
    * Spongiform encephalopathy
    * Spontaneous periodic hypothermia
    * Spontaneous pneumothorax familial type
    * Sporotrichosis
    * Spotted fever
    * Spranger Schinzel Myers syndrome
    * Sprengel deformity
    * Squamous cell carcinoma
    * SSADH deficiency (succinic semialdehyde dehydrogenase deficiency)
    * St. Anthony's fire
    * Stachybotrys chartarum
    * Stalker chitayat syndrome
    * Stampe sorensen syndrome
    * Staphylococcal food poisoning
    * Staphylococcal toxic shock syndrome
    * Stargardt disease 1
    * Stargardt disease 3
    * Stargardt disease 4
    * Status epilepticus
    * Steatocystoma multiplex
    * Steatocystoma multiplex with natal teeth
    * Steinfeld syndrome
    * Stenotrophomonas maltophilia
    * Sterility due to immotile flagella
    * Stern Lubinsky Durrie syndrome
    * Sternal cleft
    * Sternal cyst vascular anomalies
    * Sternal malformation vascular dysplasia associatio
    * Steroid dehydrogenase deficiency dental anomalies
    * Stevens-Johnson syndrome
    * Stewart Treves syndrome
    * Stickler syndrome, type 1
    * Stickler syndrome, type 2
    * Stickler syndrome, type 3
    * Stiff skin syndrome
    * Stiff-person syndrome
    * Still's disease
    * Stimmler syndrome
    * Stocco dos Santos syndrome
    * Stoelinga de Koomen Davis syndrome
    * Stoll Alembik Dott syndrome
    * Stoll alembik finck syndrome
    * Stoll geraudel chauvin syndrome
    * Stoll kieny dott syndrome
    * Stoll Levy Francfort syndrome
    * Stomach cancer
    * Stomach cancer, familial
    * Storage pool platelet disease
    * Storm syndrome
    * Stratton garcia young syndrome
    * Stratton Parker syndrome
    * Streptococcal Group A invasive disease
    * Streptococcal Group B invasive disease
    * Striatonigral degeneration infantile
    * Strongyloidiasis
    * Strudwick syndrome
    * Stuart factor deficiency, congenital
    * Stuccokeratosis
    * Sturge-Weber syndrome
    * Stuve-Wiedemann syndrome
    * Subacute sclerosing panencephalitis
    * Subcortical laminar heterotopia
    * Subcutaneous panniculitis-like T-cell lymphoma
    * Subependymal nodular heterotopia
    * Subependymoma
    * Subpulmonary stenosis
    * Subvalvular aortic stenosis
    * Succinate coenzyme Q reductase deficiency of
    * Succinic acidemia
    * Succinic acidemia lactic acidosis congenital
    * Succinyl-CoA acetoacetate transferase deficiency
    * Sucrase-isomaltase deficiency, congenital
    * Sudden Arrhythmia Death Syndrome
    * Sudden infant death syndrome
    * Sugarman syndrome
    * Sulfite oxidase deficiency
    * Summitt syndrome
    * SUNCT headache
    * Superficial siderosis of the central nervous system
    * Superficial spreading melanoma
    * Superior mesenteric artery syndrome
    * Superior vena cava syndrome
    * Supernumerary nipples
    * Supraglottic laryngeal cancer
    * Supranuclear ocular palsy
    * Supraumbilical midabdominal raphe and facial cavernous hemangiomas
    * Susac syndrome
    * Sutton disease 2
    * Swyer James & McLeod Syndrome
    * Swyer syndrome
    * Sybert Smith syndrome
    * Sydenham's chorea
    * Symmastia
    * Symmetrical thalamic calcifications
    * Symphalangism brachydactyly
    * Symphalangism brachydactyly craniosynostosis
    * Symphalangism distal
    * Symphalangism familial proximal
    * Symphalangism short stature accessory testis
    * Symphalangism with multiple anomalies of hands and feet
    * Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
    * Syncamptodactyly scoliosis
    * Syncopal paroxysmal tachycardia
    * Syncopal tachyarythmia
    * Syncope, familial neurocardiogenic
    * Syndactyly
    * Syndactyly cataract mental retardation
    * Syndactyly Cenani Lenz type
    * Syndactyly ectodermal dysplasia cleft lip palate hand foot
    * Syndactyly type 5
    * Syndactyly type I with microcephaly and mental retardation
    * Syndactyly, type 2
    * Syndactyly, type 3
    * Syndactyly, type v
    * Syndactyly-polydactyly-ear lobe syndrome
    * Syndrome X
    * Syngnathia cleft palate
    * Syngnathia multiple anomalies
    * Synostoses, tarsal, carpal, and digital
    * Synostosis of talus and calcaneus short stature
    * Synovial cancer
    * Synovial osteochondromatosis
    * Synovial sarcoma
    * Synovitis
    * Synovitis acne pustulosis hyperostosis osteitis
    * Synovitis granulomatous with uveitis and cranial neuropathies
    * Syphilis
    * Syphilis, congenital
    * Syphilis, latent
    * Syphilis, primary
    * Syphilis, secondary
    * Syphilis, tertiary
    * Syphilitic aseptic meningitis
    * Syphilitic myelopathy (tabes dorsalis)
    * Syringobulbia
    * Syringocystadenoma papilliferum
    * Syringomas natal teeth oligodontia
    * Syringomelia hyperkeratosis
    * Syringomyelia
    * Systemic candidiasis
    * Systemic carnitine deficiency
    * Systemic mastocytosis
    * Systemic necrotizing angitis




    T


    * T cell immunodeficiency primary
    * Tabatznik syndrome
    * Takayasu arteritis
    * Tako-Tsubo syndrome
    * Talipes equinovarus
    * Talonavicular coalition
    * Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
    * Tamari Goodman syndrome
    * Tang Hsi Ryu syndrome
    * Tangier disease
    * TAR syndrome
    * Tardive dyskinesia
    * Tarlov cysts
    * TARP syndrome
    * Tarsal carpal coalition syndrome
    * Tarsal tunnel syndrome
    * TAU syndrome
    * Taurodontia absent teeth sparse hair
    * Taurodontism
    * Taurodontism, microdontia, and dens invaginatus
    * Tay-Sachs disease
    * T-cell immunodeficiency, congenital alopecia and nail dystrophy
    * T-cell lymphoma 1A
    * Teebi Kaurah syndrome
    * Teebi Naguib Al Awadi syndrome
    * Teebi Shaltout syndrome
    * Teebi syndrome
    * Teeth noneruption of with maxillary hypoplasia and genu valgum
    * Tel Hashomer camptodactyly syndrome
    * Telencephalic leukoencephalopathy
    * Telfer Sugar Jaeger syndrome
    * Temporal arteritis
    * Temporal epilepsy, familial
    * Temporomandibular ankylosis
    * Temtamy preaxial brachydactyly syndrome
    * Temtamy syndrome
    * TEN
    * Tendons, extensor, of fingers, anomalous insertion of
    * Testicular cancer
    * Testotoxicosis
    * Tetanus
    * Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities
    * Tetra- amelia X-linked
    * Tetra-amelia autosomal recessive
    * Tetraamelia multiple malformations
    * Tetra-amelia with pulmonary hypoplasia
    * Tetrahydrobiopterin deficiencies
    * Tetralogy of fallot and glaucoma
    * Tetraploidy
    * Tetrasomy X
    * Thakker Donnai syndrome
    * Thalamic degeneration symmetrical infantile
    * Thalamic degeneration, symmetric infantile
    * Thalamic syndrome
    * Thalassemia
    * Thalassemia minor
    * Thanatophoric dysplasia Glasgow variant
    * Thanatophoric dysplasia, type 1
    * Thanatophoric dysplasia, type 2
    * Thanos Stewart Zonana syndrome
    * Theodor Hertz Goodman syndrome
    * Thiamine responsive megaloblastic anemia syndrome
    * Thickened earlobes with conductive deafness from incus-stapes abnormalities
    * Thiele syndrome
    * Thies Reis syndrome
    * Thin ribs tubular bones dysmorphism
    * Thiolase deficiency
    * Thiopurine S methyltranferase deficiency
    * Thomas Jewett Raines syndrome
    * Thomas syndrome
    * Thompson Baraitser syndrome
    * Thong Douglas Ferrante syndrome
    * Thoracic celosomia
    * Thoracic dysplasia hydrocephalus syndrome
    * Thoracic outlet syndrome
    * Thoraco abdominal enteric duplication
    * Thoraco limb dysplasia Rivera type
    * Thoracolaryngopelvic dysplasia
    * Thoracopelvic dysostosis
    * Thost-Unna palmoplantar keratoderma
    * Thrombasthenia
    * Thrombasthenia of Glanzmann and Naegeli
    * Thrombocytopathy
    * Thrombocytopathy asplenia miosis
    * Thrombocytopenia cerebellar hypoplasia short stature
    * Thrombocytopenia chromosome breakage
    * Thrombocytopenia Robin sequence
    * Thrombocytopenia X-linked
    * Thrombocytopenia, cyclic
    * Thrombocytopenic purpura, autoimmune
    * Thrombomodulin anomalies, familial
    * Thrombotic thrombocytopenic purpura, acquired
    * Thrombotic thrombocytopenic purpura, congenital
    * Thumb absence hypoplastic halluces
    * Thumb absent short stature immune deficiency
    * Thumb deformity
    * Thumb deformity, alopecia, pigmentation anomaly
    * Thumb stiff brachydactyly mental retardation
    * Thymic epithelial tumor
    * Thymic hyperplasia
    * Thymic-Renal-Anal-Lung dysplasia
    * Thyrocerebral-retinal syndrome
    * Thyroglossal tract cyst
    * Thyroid agenesis
    * Thyroid cancer, anaplastic
    * Thyroid cancer, familial medullary
    * Thyroid cancer, follicular
    * Thyroid cancer, Hurthle cell
    * Thyroid cancer, medullary
    * Thyroid cancer, papillary
    * Thyroid hormone plasma membrane transport defect
    * Thyrotropin deficiency, isolated
    * Tibia absent polydactyly arachnoid cyst
    * Tibiae bowed radial anomalies osteopenia fracture
    * Tibial aplasia ectrodactyly
    * Tibial aplasia ectrodactyly hydrocephalus
    * Tibial hemimelia cleft lip palate
    * Tick paralysis
    * Tick-borne encephalitis
    * Tièche-Jadassohn nevus
    * Tietz syndrome
    * Tietze syndrome
    * Tight skin contracture syndrome, lethal
    * Tiglic acidemia
    * Timothy syndrome
    * T-Lymphocytopenia
    * Togaviridae disease
    * Tollner Horst Manzke syndrome
    * Tolosa-Hunt syndrome
    * Tomaculous neuropathy
    * Tome Brune Fardeau syndrome
    * Tongue neoplasm
    * Toni-Debre-Fanconi syndrome
    * Toni-Fanconi syndrome
    * Tonoki syndrome
    * TORCH syndrome
    * Toriello Carey syndrome
    * Toriello Lacassie Droste syndrome
    * Toriello syndrome
    * Toriello-Higgins-Miller syndrome
    * Torsion dystonia
    * Torsion dystonia 7
    * Torsion dystonia with onset in infancy
    * Torticollis keloids cryptorchidism renal dysplasia
    * Torticollis, familial
    * Torulopsis
    * Total Hypotrichosis, Mari type
    * Touraine-Solente-Golé syndrome
    * Townes-Brocks syndrome
    * Toxocariasis
    * Tracheal agenesis
    * Tracheal agenesis without tracheoesophageal fistula
    * Tracheobronchomalacia
    * Tracheobronchomegaly
    * Tracheobronchopathia osteoplastica
    * Tracheoesophageal fistula
    * Tracheoesophageal fistula symphalangism
    * Tracheophageal fistula hypospadias
    * Tranebjaerg Svejgaard syndrome
    * Transcobalamin 2 deficiency
    * Transient bullous dermolysis of the newborn
    * Transient erythroblastopenia of childhood
    * Transient Global Amnesia
    * Transient neonatal arthrogryposis
    * Transitional cell carcinoma
    * Transplacental infections
    * Transposition of great arteries
    * Transverse limb deficiency hemangioma
    * Transverse myelitis neuromyelitis optica
    * Transverse myelitits
    * Treacher Collins syndrome
    * Treft Sanborn Carey syndrome
    * Tremor hereditary essential, 1
    * Tremor hereditary essential, 2
    * Tremors, nystagmus and duodenal ulcers
    * Treponema infection
    * Trichinellosis
    * Tricho odonto onycho dermal syndrome
    * Tricho odonto onychodysplasia syndactyly dominant type
    * Tricho onychic dysplasia
    * Tricho onycho hypohidrotic dysplasia
    * Tricho retino dento digital syndrome
    * Trichodental syndrome
    * Tricho-dento-osseous syndrome
    * Tricho-dento-osseous syndrome 1
    * Trichodermodysplasia dental alterations
    * Trichodysplasia xeroderma
    * Trichoepithelioma multiple familial
    * Trichofolliculoma
    * Tricho-hepato-enteric syndrome
    * Trichomalacia
    * Trichomegaly cataract hereditary spherocytosis
    * Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina
    * Trichoodontoonychial dysplasia
    * Trichorhinophalangeal syndrome type 1
    * Trichorhinophalangeal syndrome type 2
    * Trichorhinophalangeal syndrome type 3
    * Trichorrhexis nodosa syndrome
    * Trichoscyphodysplasia
    * Trichostasis spinulosa
    * Trichothiodystrophy
    * Trichothiodystrophy sun sensitivity
    * Trichotillomania
    * Tricuspid atresia
    * Trigeminal neuralgia
    * Trigger thumb
    * Triglyceride storage disease with impaired long-chain fatty acid oxidation
    * Trigonocephaly bifid nose acral anomalies
    * Trigonocephaly broad thumbs
    * Trigonocephaly ptosis coloboma
    * Trigonocephaly ptosis mental retardation
    * Trigonomacrocephaly tibial defect polydactyly
    * Trihydroxycholestanoylcoa oxidase isolated deficiency
    * Trimethylaminuria
    * Triopia
    * Triose phosphate-isomerase deficiency
    * Triphalangeal thumb non opposable
    * Triphalangeal thumb polysyndactyly syndrome
    * Triphalangeal thumbs brachyectrodactyly
    * Triploid Syndrome
    * Trisomy 1 mosaicism
    * Trisomy 11 mosaicism
    * Trisomy 12 mosaicism
    * Trisomy 2 & 5 pseudomosaicism
    * Trisomy 2 mosaicism
    * Trisomy 3 mosaicism
    * Trisomy 6
    * Trochlear dysplasia
    * Tropical Spastic Paraparesis
    * Tropical sprue
    * Trueb Burg Bottani syndrome
    * Trypanosomiasis, east-African
    * Trypanosomiasis, west African
    * Tsao Ellingson syndrome
    * Tsukahara Azuno Kajii syndrome
    * Tsukahara Kajii syndrome
    * Tsukuhara syndrome
    * Tuberculosis
    * Tuberculosis, pulmonary
    * Tuberculous meningitis
    * Tuberculous uveitis
    * Tuberous sclerosis
    * Tuberous sclerosis, type 1
    * Tuberous sclerosis, type 2
    * Tubulointerstitial nephritis and uveitis
    * Tucker syndrome
    * Tuffli Laxova syndrome
    * Tufted angioma
    * Tukel syndrome
    * Tularemia
    * Tungiasis
    * Tunglang Savage Bellman syndrome
    * Turcot syndrome
    * Turner syndrome
    * Turner-like syndrome
    * Twin twin transfusion syndrome
    * Tylosis
    * Typhoid
    * Typhoid fever
    * Typhus
    * Tyrosine transaminase deficiency
    * Tyrosinemia
    * Tyrosinemia type 1
    * Tyrosine-oxidase temporary deficiency

  8. #8
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    U


    * Uhl anomaly
    * Ulerythema ophryogenesis
    * Ulna hypoplasia with mental retardation
    * Ulna metaphyseal dysplasia syndrome
    * Ulnar hypoplasia lobster claw deformity of feet
    * Ulnar-mammary syndrome
    * Umbilical cord ulceration and intestinal atresia
    * Uncombable hair syndrome
    * Uniparental disomy
    * Uniparental disomy of 6
    * Uniparental disomy of 11
    * Uniparental disomy of 13
    * Uniparental disomy of chromosome 2
    * Uniparental disomy, paternal, chromosome 14
    * Upington disease
    * Upton Young syndrome
    * Urachal adenocarcinoma
    * Urachal cancer
    * Urachal cyst
    * Urban Schosser Spohn syndrome
    * Urea cycle disorders
    * Urethral cancer
    * Urethral obstruction sequence
    * Urinary tract neoplasm
    * Urioste Martinez-Frias syndrome
    * Urocanase deficiency
    * Urofacial syndrome
    * Urogenital adysplasia
    * Urogenital adysplasia, hereditary
    * Uropathy distal obstructive polydactyly
    * Urticaria pigmentosa
    * Usher syndrome
    * Usher syndrome, type 1
    * Usher syndrome, type 1B
    * Usher syndrome, type 1C
    * Usher syndrome, type 1D
    * Usher syndrome, type 1E
    * Usher syndrome, type 1F
    * Usher syndrome, type 2A
    * Usher syndrome, type 2B
    * Usher syndrome, type 2C
    * Usher syndrome, type 3
    * Uterine sarcoma
    * Uveal diseases
    * Uveal melanoma



    V


    * VACTERL association
    * VACTERL association with hydrocephaly, X-linked
    * VACTERL hydrocephaly
    * Vacuolar myopathy
    * Vagina, absence of
    * Vaginal cancer
    * Vagneur Triolle Ripert syndrome
    * Valinemia
    * Valproic acid antenatal infection
    * Van Allen Myhre syndrome
    * Van Bogaert-Hozay syndrome
    * Van Buchem disease type 2
    * Van Den Bosch syndrome
    * Van der Woude syndrome
    * Van der Woude syndrome 2
    * Van Goethem syndrome
    * Van Maldergem Wetzburger Verloes syndrome
    * Van Regemorter Pierquin Vamos syndrome
    * Vancomycin-resistant enterococcal bacteremia
    * Varadi Papp syndrome
    * Variant Creutzfeldt-Jakob disease
    * Varicella virus antenatal infection
    * Varicella Zoster
    * Variegate porphyria
    * Vascular malposition
    * Vasculitis hypersensitivity
    * Vasculitis, autoimmune
    * Vasculitis, cutaneous necrotizing
    * Vasopressin-resistant diabetes insipidus
    * Vasquez Hurst Sotos syndrome
    * VATER association
    * Vein of Galen aneurysm
    * Velocardiofacial syndrome
    * Velofacioskeletal syndrome
    * Velopharyngeal incompetence
    * Venencie Powell Winkelmann syndrome
    * Ventricular extrasystoles perodactyly Robin sequence
    * Ventricular familial preexcitation syndrome
    * Ventricular fibrillation, idiopathic
    * Ventricular septal defects
    * Ventriculo-arterial discordance, isolated
    * Ventruto Digirolamo Festa syndrome
    * Verloes Bourguignon syndrome
    * Verloes Gillerot Fryns syndrome
    * Verloes Van Maldergem Marneffe syndrome
    * Verloove Vanhorick Brubakk syndrome
    * Vernal keratoconjunctivitis
    * Verrucous nevus
    * Verrucous nevus acanthokeratolytic
    * Vertebral body fusion overgrowth
    * Vertebral fusion posterior lumbosacral blepharoptosis
    * Vertical talus, congenital
    * Vestibulocochlear dysfunction progressive familial
    * Vibratory angioedema
    * Vibrio vulnificus infection
    * Vibrios (other than Vibrio cholerae)
    * Viljoen Kallis Voges syndrome
    * Viljoen Smart syndrome
    * Viljoen Winship syndrome
    * VIPoma
    * Viral hemorrhagic fever
    * Virilizing ovarian tumor
    * Virus associated hemophagocytic syndrome
    * Visceral myopathy familial external ophthalmoplegia
    * Visceral steatosis
    * Viscero-atrial heterotaxia
    * Vitamin A embryopathy
    * Vitamin D resistant rickets
    * Vitiligo mental retardation facial dysmorphism uremia
    * Vitreoretinal degeneration
    * Vitreoretinochoroidopathy dominant
    * VLCAD deficiency
    * Vocal cord dysfunction familial
    * Vogt-Koyanagi-Harada syndrome
    * Vohwinkel syndrome
    * Von Gierke disease
    * Von Hippel-Lindau syndrome
    * Von Willebrand disease
    * Von Willebrand disease, dominant form
    * Von Willebrand disease, platelet type
    * Von Willebrand disease, recessive form
    * Vulvar cancer
    * Vulvar Vestibulitis Syndrome



    W



    * Waaler Aarskog syndrome
    * Waardenburg syndrome
    * Waardenburg syndrome type 1
    * Waardenburg syndrome type 2
    * Waardenburg syndrome type 2A
    * Waardenburg syndrome type 2B
    * Waardenburg syndrome type 3
    * Waardenburg syndrome, type 4
    * WAGR syndrome
    * Walbaum Titran Durieux Crepin syndrome
    * Waldenstrom macroglobulinemia
    * Waldmann disease
    * Walker Dyson syndrome
    * Wallenberg's syndrome
    * Wallerian degeneration
    * Wandering spleen
    * Warburg Sjo Fledelius syndrome
    * Warburton Anyane Yeboa syndrome
    * Warfarin syndrome
    * Warman Mulliken Hayward syndrome
    * Warm-reacting-antibody hemolytic anemia
    * Warthin's tumor
    * Waterhouse–Friderichsen syndrome
    * Watermelon stomach
    * Watson syndrome
    * WDHA syndrome
    * Weaver Johnson syndrome
    * Weaver like syndrome
    * Weaver syndrome
    * Weaver Williams syndrome
    * Weber syndrome
    * Weber-Christian disease
    * Webster Deming syndrome
    * Wegener's granulomatosis
    * Wegmann Jones Smith syndrome
    * Weinstein Kliman Scully syndrome
    * Weismann Netter Stuhl syndrome
    * Welander distal myopathy, Swedish type
    * Weleber Hecht Bigley syndrome
    * Wellesley Carmen French syndrome
    * Wells Jankovic syndrome
    * Wells syndrome
    * Werdnig-Hoffmann disease
    * Werner's syndrome
    * Wernicke-Korsakoff syndrome
    * West nile encephalitis
    * West nile virus
    * West syndrome
    * Western equine encephalitis
    * Western/Eastern/California encephalitis
    * Westphal disease
    * Weyers acrofacial dysostosis
    * Weyers ulnar ray/oligodactyly syndrome
    * WHIM syndrome
    * Whipple disease
    * Whispering dysphonia, hereditary
    * Whistling face syndrome, recessive form
    * Whitaker syndrome
    * White forelock with malformations
    * White matter hypoplasia, corpus callosum agenesia, and mental retardation
    * White platelet syndrome
    * White sponge nevus of cannon
    * Whooping cough
    * Wieacker syndrome
    * Wiedemann Grosse Dibbern syndrome
    * Wiedemann Oldigs Oppermann syndrome
    * Wiedemann Opitz syndrome
    * Wildervanck syndrome
    * Wilkes Stevenson syndrome
    * Wilkie Taylor Scambler syndrome
    * Willebrand disease, acquired
    * Willems De vries syndrome
    * Williams syndrome
    * Wilms' tumor
    * Wilms tumor and pseudohermaphroditism
    * Wilms tumor and radial bilateral aplasia
    * Wilson disease
    * Wilson-Turner X-linked mental retardation syndrome
    * Winchester syndrome
    * Winkelman Bethge Pfeiffer syndrome
    * Winship Viljoen Leary syndrome
    * Winter Harding Hyde syndrome
    * Winter Shortland Temple syndrome
    * Wisconsin syndrome
    * Wiskott Aldrich syndrome
    * Witkop syndrome
    * Wittwer syndrome
    * Wohlwill-Andrade syndrome
    * Wolcott-Rallison syndrome
    * Wolffian tumor
    * Wolff-Parkinson-White syndrome
    * Wolf-Hirschorn syndrome
    * Wolfram syndrome
    * Wolman disease
    * Woodhouse Sakati syndrome
    * Woods Black Norbury syndrome
    * Woods Leversha Rogers syndrome
    * Woolly hair, congenital
    * Woolly hair, hypotrichosis, everted lower lip and outstanding ears
    * Worster Drought syndrome
    * Worth syndrome
    * Wright Dyck syndrome
    * Wrinkly skin syndrome
    * WT limb blood syndrome
    * Wyburn Mason's syndrome




    X



    * X chromosome, duplication Xq13 1 q21 1
    * X chromosome, monosomy Xp22 pter
    * X chromosome, monosomy Xq28
    * X chromosome, trisomy 26-28
    * X chromosome, trisomy Xp3
    * X chromosome, trisomy Xpter Xq13
    * X chromosome, trisomy Xq
    * X chromosome, trisomy Xq25
    * X fragile site folic acid type
    * Xanthic urolithiasis
    * Xanthine oxydase deficiency
    * Xanthinuria
    * Xanthogranulomatous cholecystitis
    * Xanthogranulomatous sialadenitis
    * Xerocytosis, hereditary
    * Xeroderma pigmentosum
    * Xeroderma pigmentosum, type 1
    * Xeroderma pigmentosum, type 2
    * Xeroderma pigmentosum, type 3
    * Xeroderma pigmentosum, type 5
    * Xeroderma pigmentosum, type 6
    * Xeroderma pigmentosum, type 7
    * Xeroderma pigmentosum, type 9
    * Xeroderma pigmentosum, variant type
    * Xeroderma talipes enamel defects
    * XK aprosencephaly
    * X-linked adrenal hypoplasia congenita
    * X-linked adrenoleukodystrophy
    * X-linked agammaglobulinemia
    * X-linked alpha thalassemia mental retardation syndrome (ATR-X)
    * X-linked ichthyosis
    * X-linked lymphoproliferative syndrome
    * X-linked mental retardation and macro-orchidism
    * X-linked mental retardation associated with marXq2
    * X-linked mental retardation Brooks type
    * X-linked mental retardation craniofacial abnormal microcephaly club
    * X-linked mental retardation De silva type
    * X-linked mental retardation Gustavson type
    * X-linked mental retardation Hamel type
    * X-linked mental retardation type Martinez
    * X-linked mental retardation type Raynaud
    * X-linked mental retardation type Schutz
    * X-linked mental retardation type Wittwer
    * X-linked sideroblastic anemia
    * XX male syndrome
    * XY Female



    Y

    * Y chromosome deletions
    * Y chromosome pericentric inversion
    * Yaws
    * Yellow fever
    * Yellow nail syndrome
    * Yemenite deaf-blind hypopigmentation syndrome
    * Yim Ebbin syndrome
    * Yolk sac tumor
    * Yorifuji Okuno syndrome
    * Young Hughes syndrome
    * Young McKeever Squier syndrome
    * Young Simpson syndrome
    * Young Syndrome
    * Yunis Varon syndrome
    * Yusho Disease


    Z


    * Zadik Barak Levin syndrome
    * ZAP70 deficiency
    * Zazam Sheriff Phillips syndrome
    * Zellweger syndrome
    * Zerres Rietschel Majewski syndrome
    * Zimmerman Laband syndrome
    * Zlotogora syndrome
    * Zollinger-Ellison syndrome
    * Zonular cataract and nystagmus
    * Zori Stalker Williams syndrome
    * Zunich neuroectodermal syndrome
    * Zuska's Disease
    * Zygomycosis


    0-49


    * 10q Partial trisomy
    * 17 Beta-hydroxysteroid dehydrogenase deficiency
    * 18-Hydroxylase deficiency
    * 1p36.33 deletion
    * 2-hydroxyethyl methacrylate sensitization
    * 2-Hydroxyglutaricaciduria
    * 2-Methylacetoacetyl CoA thiolase deficiency
    * 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency
    * 3 alpha methylcrotonyl-coa carboxylase 2 deficiency
    * 3-@hydroxyacyl-coa dehydrogenase deficiency
    * 3-@methylglutaconic aciduria, type III
    * 3C syndrome
    * 3-Hydroxyisobutyric aciduria
    * 3M syndrome
    * 46,XX Gonadal dysgenesis epibulbar dermoid
    * 47 XYY syndrome
    * 47,XXX syndrome
    * 49,XXXXX syndrome
    * 49,XXXXY syndrome
    * 4-hydroxyphenylacetic aciduria
    vitrag24 likes this.

  9. #9
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    **edited**
    Last edited by vitrag24; 08-14-2011 at 10:16 AM. Reason: Spammed links

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